Variant report

Variant	rs1143776
Chromosome Location	chr3:100428118-100428119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr3:100428046-100428396	K562	blood:	n/a	n/a
2	E2F6	chr3:100427929-100428705	H1-hESC	embryonic stem cell:	n/a	chr3:100428398-100428407 chr3:100428146-100428155 chr3:100428261-100428270
3	ZBTB33	chr3:100428057-100428508	A549	lung:	n/a	n/a
4	SIN3AK20	chr3:100428107-100428666	PANC-1	pancreas:	n/a	n/a
5	GABPA	chr3:100427702-100428537	SK-N-SH	brain:	n/a	chr3:100428142-100428156 chr3:100428260-100428271 chr3:100428145-100428154 chr3:100428260-100428269 chr3:100428257-100428271 chr3:100428145-100428156
6	EP300	chr3:100427736-100428471	GM12878	blood:	n/a	chr3:100428406-100428415 chr3:100428123-100428130
7	POLR2A	chr3:100427407-100429030	MCF-7	breast:	n/a	n/a
8	CTCF	chr3:100427962-100428377	GM12878	blood:	n/a	n/a
9	ELF1	chr3:100427986-100428662	GM12878	blood:	n/a	chr3:100428118-100428131 chr3:100428120-100428131 chr3:100428120-100428131 chr3:100428121-100428130 chr3:100428547-100428559 chr3:100428540-100428552
10	ZBTB33	chr3:100428104-100428581	HCT-116	colon:	n/a	n/a
11	POLR2A	chr3:100427590-100428676	PFSK-1	brain:	n/a	n/a
12	TCF7L2	chr3:100428046-100428437	Hela-S3	cervix:	n/a	n/a
13	NRF1	chr3:100427622-100428699	SK-N-SH	brain:	n/a	chr3:100428144-100428155 chr3:100428142-100428156 chr3:100428260-100428271 chr3:100428145-100428154 chr3:100428260-100428269 chr3:100428257-100428271 chr3:100428145-100428156
14	POLR2A	chr3:100427929-100428697	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr3:100427875-100428627	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr3:100427577-100428647	U87	brain:	n/a	n/a
17	CREB1	chr3:100427968-100428326	A549	lung:	n/a	n/a
18	BRCA1	chr3:100427866-100428531	GM12878	blood:	n/a	n/a
19	SP1	chr3:100427882-100428567	GM12878	blood:	n/a	chr3:100428078-100428087 chr3:100428077-100428089 chr3:100428079-100428088 chr3:100428078-100428088 chr3:100428077-100428089
20	POLR2A	chr3:100427773-100429813	GM18505	blood:	n/a	n/a
21	MAX	chr3:100427950-100428517	K562	blood:	n/a	n/a
22	POLR2A	chr3:100427845-100429022	GM18526	blood:	n/a	n/a
23	TAF1	chr3:100427851-100428625	MCF-7	breast:	n/a	n/a
24	PML	chr3:100427522-100428740	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:100427804-100428673	GM12891	blood:	n/a	n/a
26	CTBP2	chr3:100428102-100429001	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr3:100427906-100429006	HepG2	liver:	n/a	n/a
28	GABPA	chr3:100427980-100428626	HepG2	liver:	n/a	chr3:100428142-100428156 chr3:100428260-100428271 chr3:100428145-100428154 chr3:100428260-100428269 chr3:100428257-100428271 chr3:100428145-100428156
29	POLR2A	chr3:100427095-100429966	GM12878	blood:	n/a	n/a
30	USF1	chr3:100427918-100428371	A549	lung:	n/a	n/a
31	RFX5	chr3:100427753-100428510	GM12878	blood:	n/a	n/a
32	SPI1	chr3:100427934-100428398	HL-60	blood:	n/a	chr3:100428118-100428131
33	RCOR1	chr3:100428042-100428639	HepG2	liver:	n/a	n/a
34	SPI1	chr3:100427948-100428371	GM12891	blood:	n/a	chr3:100428118-100428131
35	POLR2A	chr3:100427816-100428732	HepG2	liver:	n/a	n/a
36	E2F6	chr3:100427833-100428564	A549	lung:	n/a	chr3:100428398-100428407 chr3:100428146-100428155 chr3:100428261-100428270
37	MAX	chr3:100427902-100428722	ECC-1	luminal epithelium:	n/a	n/a
38	BHLHE40	chr3:100427970-100428628	HepG2	liver:	n/a	chr3:100428533-100428549
39	TBL1XR1	chr3:100427795-100428529	K562	blood:	n/a	n/a
40	POLR2A	chr3:100427800-100428678	GM12892	blood:	n/a	n/a
41	MXI1	chr3:100427772-100428661	GM12878	blood:	n/a	n/a
42	POU2F2	chr3:100427981-100428499	GM12891	blood:	n/a	n/a
43	SPI1	chr3:100427982-100428258	GM12878	blood:	n/a	chr3:100428118-100428131
44	ZKSCAN1	chr3:100428007-100428613	Hela-S3	cervix:	n/a	n/a
45	TEAD4	chr3:100428016-100428441	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr3:100427897-100428939	K562	blood:	n/a	n/a
47	FOXA1	chr3:100428066-100428536	T-47D	breast:	n/a	n/a
48	MYBL2	chr3:100427770-100428596	HepG2	liver:	n/a	n/a
49	GABPA	chr3:100427973-100428279	GM12878	blood:	n/a	chr3:100428142-100428156 chr3:100428260-100428271 chr3:100428145-100428154 chr3:100428260-100428269 chr3:100428257-100428271 chr3:100428145-100428156
50	SPI1	chr3:100427840-100428489	HL-60	blood:	n/a	chr3:100428118-100428131

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:100428070-100428120	SK-N-MC	brain:	n/a
2	chr3:100428070-100428120	BE2_C	brain:	n/a
3	chr3:100428070-100428120	HRPEpiC	eye:	n/a
4	chr3:100428070-100428120	HCF	heart:	n/a
5	chr3:100428070-100428120	RPTEC	kidney:	n/a
6	chr3:100428070-100428120	HNPCEpiC	eye:	n/a
7	chr3:100428070-100428120	HRCEpiC	kidney:	n/a
8	chr3:100428070-100428120	HIPEpiC	eye:	n/a
9	chr3:100428070-100428120	SK-N-SH	brain:	n/a
10	chr3:100428070-100428120	ovcar-3	ovarian:	n/a
11	chr3:100428070-100428120	H1-hESC	embryonic stem cell:	embryo
12	chr3:100428070-100428120	NHBE	bronchial:	n/a
13	chr3:100428070-100428120	GM12892	blood:	n/a
14	chr3:100428070-100428120	T-47D	breast:	n/a
15	chr3:100428070-100428120	IMR90	lung:	fetal
16	chr3:100428070-100428120	PFSK-1	brain:	n/a
17	chr3:100428070-100428120	AG04449	skin:	fetal
18	chr3:100428070-100428120	HUVEC	blood vessel:	n/a
19	chr3:100428070-100428120	U87	brain:	n/a
20	chr3:100428070-100428120	HEK293	kidney:	embryo
21	chr3:100428070-100428120	HAEpiC	amniotic membrane:	n/a
22	chr3:100428070-100428120	NH-A	brain:	n/a
23	chr3:100428070-100428120	MCF-7	breast:	n/a
24	chr3:100428070-100428120	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:100428070-100428120	HCPEpiC	choroid plexus:	n/a
26	chr3:100428070-100428120	NB4	blood:	n/a
27	chr3:100428070-100428120	HepG2	liver:	n/a
28	chr3:100428070-100428120	GM19239	blood:	n/a
29	chr3:100428070-100428120	SK-N-SH_RA	brain:	n/a
30	chr3:100428070-100428120	Hepatocyte	liver:	n/a
31	chr3:100428070-100428120	HCM	heart:	n/a
32	chr3:100428070-100428120	BJ	skin:	n/a
33	chr3:100428070-100428120	HL-60	blood:	n/a
34	chr3:100428070-100428120	HCT-116	colon:	n/a
35	chr3:100428070-100428120	AoSMC	blood vessel:	n/a
36	chr3:100428070-100428120	LNCaP	prostate:	n/a
37	chr3:100428070-100428120	ProgFib	skin:	n/a
38	chr3:100428070-100428120	HRE	kidney:	n/a
39	chr3:100428070-100428120	MCF10A-Er-Src	breast:	n/a
40	chr3:100428070-100428120	Caco-2	colon:	n/a
41	chr3:100428070-100428120	GM12878	blood:	n/a
42	chr3:100428070-100428120	ECC-1	luminal epithelium:	n/a
43	chr3:100428070-100428120	GM06990	blood:	n/a
44	chr3:100428070-100428120	CMK	blood:	n/a
45	chr3:100428070-100428120	PrEC	prostate:	n/a
46	chr3:100428070-100428120	NT2-D1	testis:	n/a
47	chr3:100428070-100428120	SAEC	small airway:	n/a
48	chr3:100428070-100428120	HEEpiC	esophagus:	n/a
49	chr3:100428070-100428120	GM12891	blood:	n/a
50	chr3:100428070-100428120	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:67550820..67551820-chr3:100427957..100428561,3	HCT-116	colon:
2	chr3:100118702..100121299-chr3:100427057..100432444,4	K562	blood:
3	chr20:33543190..33544135-chr3:100427443..100428252,2	NB4	blood:
4	chr17:57918588..57920867-chr3:100426772..100429347,2	MCF-7	breast:
5	chr18:3247419..3248282-chr3:100427656..100428171,2	Hela-S3	cervix:
6	chr1:73273811..73275334-chr3:100425817..100428133,2	MCF-7	breast:
7	chr12:56435446..56435990-chr3:100428103..100428866,2	Hela-S3	cervix:
8	chr11:59436077..59436715-chr3:100428082..100428818,2	Hela-S3	cervix:
9	chr3:100325886..100329093-chr3:100426560..100431642,4	MCF-7	breast:

Variant related genes	Relation type
TFG	TF binding region
TFG	CpG island
ENSG00000166889	Chromatin interaction
ENSG00000101608	Chromatin interaction
ENSG00000206535	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000154174	Chromatin interaction
ENSG00000144820	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000100983	Chromatin interaction
ENSG00000236605	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1059363	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10755119	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10936349	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11353	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1143774	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144105	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144106	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144107	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144108	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144122	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144124	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144125	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144126	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1145348	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1145351	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1165250	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1165253	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1165255	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1165260	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1165264	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1165534	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11921801	0.83[EUR][1000 genomes]
rs11921907	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1384198	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1520652	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1620897	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1623413	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1628469	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1676339	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1676343	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1676345	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1676346	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1676349	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1676366	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1680520	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1718272	0.83[ASN][1000 genomes]
rs1718273	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1718278	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1718279	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1915309	0.91[EUR][1000 genomes]
rs2126540	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2461498	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2948147	0.82[AMR][1000 genomes]
rs3087787	0.88[EUR][1000 genomes]
rs3796276	0.89[EUR][1000 genomes]
rs4088588	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4144968	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4367102	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4928070	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4928081	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4928087	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs560803	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs586347	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs591728	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs603630	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs605300	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs610854	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs629091	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6441383	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs653002	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6767460	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6770559	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6773482	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6788891	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6789364	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6798180	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs694612	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7617579	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7627660	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7635652	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7637250	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7637272	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7644599	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs900234	0.83[ASN][1000 genomes]
rs9843956	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751965	chr3:100299310-100462527	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2751966	chr3:100299310-100468500	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2752830	chr3:100299329-100442478	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv432464	chr3:100299329-100442478	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv2751967	chr3:100299329-100455139	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv2751968	chr3:100299329-100476713	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv432466	chr3:100299329-100476713	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv536667	chr3:100308355-100445857	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv460770	chr3:100310812-100433592	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv591150	chr3:100310812-100433592	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv2751969	chr3:100312499-100479384	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv2763708	chr3:100317928-100442509	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv591151	chr3:100322043-100433592	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv516418	chr3:100324442-100433592	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv460771	chr3:100324442-100433592	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv591152	chr3:100324442-100433592	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv877220	chr3:100324442-100467018	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv1007742	chr3:100326173-100441716	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv1014117	chr3:100326173-100442478	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv591153	chr3:100335088-100437892	Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv591154	chr3:100335088-100439278	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv591155	chr3:100335088-100444854	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv591156	chr3:100335088-100451133	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv591157	chr3:100335088-100455139	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	nsv869920	chr3:100336028-100437968	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
26	nsv1002624	chr3:100340056-100441716	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	nsv1006373	chr3:100340056-100442386	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	nsv1006303	chr3:100340056-100442478	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	nsv1006402	chr3:100340056-100446966	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
30	nsv999432	chr3:100340056-100448183	Genic enhancers Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv1008949	chr3:100342190-100442478	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
32	nsv1007437	chr3:100342190-100448183	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
33	nsv432467	chr3:100342310-100442310	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
34	esv2751970	chr3:100342310-100442478	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
35	nsv432468	chr3:100342310-100442478	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
36	esv2751971	chr3:100342493-100468500	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
37	esv2751972	chr3:100342493-100493062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
38	nsv432469	chr3:100342493-100493062	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
39	nsv591159	chr3:100346146-100444854	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
40	nsv1008353	chr3:100350244-100441716	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
41	nsv1009835	chr3:100350244-100442478	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
42	nsv1007046	chr3:100350244-100446604	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
43	nsv460772	chr3:100350745-100432975	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
44	nsv591162	chr3:100350745-100432975	Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
45	nsv460774	chr3:100350745-100433592	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
46	nsv460775	chr3:100350745-100433592	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
47	nsv460776	chr3:100350745-100433592	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
48	nsv460777	chr3:100350745-100433592	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
49	nsv460778	chr3:100350745-100433592	Genic enhancers ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
50	nsv460779	chr3:100350745-100433592	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1143776	TFG	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100427400-100429000	Active TSS	Thymus	Thymus
2	chr3:100427400-100429200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr3:100427400-100429200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:100427400-100429200	Active TSS	Fetal Brain Male	brain
5	chr3:100427400-100429400	Active TSS	Liver	Liver
6	chr3:100427400-100429400	Active TSS	Rectal Smooth Muscle	rectum
7	chr3:100427400-100429600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr3:100427400-100429800	Active TSS	Colonic Mucosa	Colon
9	chr3:100427400-100429800	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr3:100427400-100430000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:100427400-100430600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:100427600-100428200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr3:100427600-100428200	Active TSS	Right Atrium	heart
14	chr3:100427600-100428400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:100427600-100429200	Active TSS	Brain Cingulate Gyrus	brain
16	chr3:100427600-100429400	Active TSS	Brain Germinal Matrix	brain
17	chr3:100427600-100429400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr3:100427600-100429400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr3:100427600-100429400	Active TSS	Fetal Stomach	stomach
20	chr3:100427600-100429600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:100427600-100429600	Active TSS	Psoas Muscle	Psoas
22	chr3:100427600-100429800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr3:100427600-100429800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:100427600-100429800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:100427600-100429800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:100427600-100429800	Active TSS	Aorta	Aorta
27	chr3:100427600-100429800	Active TSS	Fetal Muscle Trunk	muscle
28	chr3:100427600-100429800	Active TSS	Stomach Smooth Muscle	stomach
29	chr3:100427600-100430000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:100427600-100430000	Active TSS	Right Ventricle	heart
31	chr3:100427800-100428200	Active TSS	Stomach Mucosa	stomach
32	chr3:100427800-100429000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr3:100427800-100429000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr3:100427800-100429000	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:100427800-100429000	Active TSS	HepG2	liver
36	chr3:100427800-100429200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:100427800-100429200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr3:100427800-100429200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr3:100427800-100429200	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr3:100427800-100429200	Active TSS	Adipose Nuclei	Adipose
41	chr3:100427800-100429200	Active TSS	Brain Angular Gyrus	brain
42	chr3:100427800-100429200	Active TSS	Brain Hippocampus Middle	brain
43	chr3:100427800-100429200	Active TSS	Colon Smooth Muscle	Colon
44	chr3:100427800-100429200	Active TSS	Duodenum Mucosa	Duodenum
45	chr3:100427800-100429200	Active TSS	Fetal Heart	heart
46	chr3:100427800-100429400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr3:100427800-100429400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr3:100427800-100429400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr3:100427800-100429400	Active TSS	Left Ventricle	heart
50	chr3:100427800-100429400	Active TSS	Skeletal Muscle Female	skeletal muscle

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