Variant report

Variant	rs6810101
Chromosome Location	chr3:100427937-100427938
allele	C/T
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	E2F6	chr3:100427929-100428705	H1-hESC	embryonic stem cell:	n/a	chr3:100428398-100428407 chr3:100428146-100428155 chr3:100428261-100428270
2	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
3	EP300	chr3:100427736-100428471	GM12878	blood:	n/a	chr3:100428406-100428415 chr3:100428123-100428130
4	POLR2A	chr3:100427407-100429030	MCF-7	breast:	n/a	n/a
5	POLR2A	chr3:100427590-100428676	PFSK-1	brain:	n/a	n/a
6	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
7	POLR2A	chr3:100427929-100428697	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr3:100427875-100428627	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr3:100427577-100428647	U87	brain:	n/a	n/a
10	BRCA1	chr3:100427866-100428531	GM12878	blood:	n/a	n/a
11	SP1	chr3:100427882-100428567	GM12878	blood:	n/a	chr3:100428078-100428087 chr3:100428077-100428089 chr3:100428079-100428088 chr3:100428078-100428088 chr3:100428077-100428089
12	POLR2A	chr3:100427773-100429813	GM18505	blood:	n/a	n/a
13	POLR2A	chr3:100427845-100429022	GM18526	blood:	n/a	n/a
14	TAF1	chr3:100427851-100428625	MCF-7	breast:	n/a	n/a
15	PML	chr3:100427522-100428740	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:100427804-100428673	GM12891	blood:	n/a	n/a
17	POLR2A	chr3:100427906-100429006	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:100427095-100429966	GM12878	blood:	n/a	n/a
19	USF1	chr3:100427918-100428371	A549	lung:	n/a	n/a
20	RFX5	chr3:100427753-100428510	GM12878	blood:	n/a	n/a
21	SPI1	chr3:100427934-100428398	HL-60	blood:	n/a	chr3:100428118-100428131
22	POLR2A	chr3:100427816-100428732	HepG2	liver:	n/a	n/a
23	E2F6	chr3:100427833-100428564	A549	lung:	n/a	chr3:100428398-100428407 chr3:100428146-100428155 chr3:100428261-100428270
24	MAX	chr3:100427902-100428722	ECC-1	luminal epithelium:	n/a	n/a
25	TBL1XR1	chr3:100427795-100428529	K562	blood:	n/a	n/a
26	POLR2A	chr3:100427800-100428678	GM12892	blood:	n/a	n/a
27	MXI1	chr3:100427772-100428661	GM12878	blood:	n/a	n/a
28	MYC	chr3:100427897-100428939	K562	blood:	n/a	n/a
29	MYBL2	chr3:100427770-100428596	HepG2	liver:	n/a	n/a
30	SPI1	chr3:100427840-100428489	HL-60	blood:	n/a	chr3:100428118-100428131
31	POLR2A	chr3:100427335-100428664	HCT-116	colon:	n/a	n/a
32	CREB1	chr3:100427842-100428608	GM12878	blood:	n/a	n/a
33	PML	chr3:100427854-100428182	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:100427849-100428685	HepG2	liver:	n/a	n/a
35	EBF1	chr3:100427668-100428452	GM12878	blood:	n/a	n/a
36	ELF1	chr3:100427862-100428547	MCF-7	breast:	n/a	chr3:100428118-100428131 chr3:100428120-100428131 chr3:100428120-100428131 chr3:100428121-100428130
37	MXI1	chr3:100427831-100428964	HepG2	liver:	n/a	n/a
38	POLR2A	chr3:100427807-100428735	HUVEC	blood vessel:	n/a	n/a
39	KAP1	chr3:100427717-100428443	U2OS	brain:	n/a	n/a
40	TBP	chr3:100427753-100428652	K562	blood:	n/a	n/a
41	ELF1	chr3:100427870-100428437	HepG2	liver:	n/a	chr3:100428118-100428131 chr3:100428120-100428131 chr3:100428120-100428131 chr3:100428121-100428130
42	POLR2A	chr3:100427909-100428672	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr3:100427691-100428652	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr3:100427459-100428667	K562	blood:	n/a	n/a
45	POLR2A	chr3:100427388-100428680	HCT-116	colon:	n/a	n/a
46	MYC	chr3:100427869-100428588	H1-hESC	embryonic stem cell:	n/a	n/a
47	CCNT2	chr3:100427839-100429006	K562	blood:	n/a	chr3:100428771-100428780 chr3:100428796-100428805
48	POLR2A	chr3:100427906-100428736	Gliobla	brain:	n/a	n/a
49	POLR2A	chr3:100427839-100429224	NB4	blood:	n/a	n/a
50	CTCF	chr3:100427927-100428274	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:100118702..100121299-chr3:100427057..100432444,4	K562	blood:
2	chr20:33543190..33544135-chr3:100427443..100428252,2	NB4	blood:
3	chr17:57918588..57920867-chr3:100426772..100429347,2	MCF-7	breast:
4	chr18:3247419..3248282-chr3:100427656..100428171,2	Hela-S3	cervix:
5	chr1:73273811..73275334-chr3:100425817..100428133,2	MCF-7	breast:
6	chr3:100325886..100329093-chr3:100426560..100431642,4	MCF-7	breast:

Variant related genes	Relation type
TFG	TF binding region
ENSG00000144820	Chromatin interaction
ENSG00000100983	Chromatin interaction
ENSG00000101608	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000154174	Chromatin interaction
ENSG00000206535	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1012364	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10936343	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10936345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10936346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10936352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10936355	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1143781	0.81[EUR][1000 genomes]
rs1144112	0.85[EUR][1000 genomes]
rs1145335	0.85[EUR][1000 genomes]
rs1165261	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1165536	0.84[EUR][1000 genomes]
rs12495397	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13059686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13092027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13098584	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1402252	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1829551	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs1903744	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36194934	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3773922	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41373752	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6441402	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6775161	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775789	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6777763	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781584	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6784601	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6793682	0.84[EUR][1000 genomes]
rs6806786	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7612334	0.81[CEU][hapmap]
rs7614943	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7617184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7628413	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7629279	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7634500	0.81[CEU][hapmap]
rs7642041	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs764684	0.85[CEU][hapmap]
rs7650690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653531	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9811878	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9813835	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9815749	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9840505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9849107	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9876383	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:86 , 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	esv2756284	chr3:100299329-100427937	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv1006559	chr3:100324275-100427937	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	nsv1006045	chr3:100340056-100427937	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
29	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
30	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
31	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
32	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
33	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
34	nsv1013021	chr3:100340535-100427937	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	nsv1004273	chr3:100350244-100427937	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6810101	TFG	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100427400-100428000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr3:100427400-100428000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr3:100427400-100428000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:100427400-100428000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr3:100427400-100428000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:100427400-100428000	Flanking Active TSS	Brain Substantia Nigra	brain
7	chr3:100427400-100428000	Enhancers	Spleen	Spleen
8	chr3:100427400-100428000	Flanking Active TSS	Dnd41	blood
9	chr3:100427400-100428000	Flanking Active TSS	Hela-S3	cervix
10	chr3:100427400-100428000	Flanking Active TSS	K562	blood
11	chr3:100427400-100428000	Flanking Active TSS	NHEK	skin
12	chr3:100427400-100429000	Active TSS	Thymus	Thymus
13	chr3:100427400-100429200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr3:100427400-100429200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:100427400-100429200	Active TSS	Fetal Brain Male	brain
16	chr3:100427400-100429400	Active TSS	Liver	Liver
17	chr3:100427400-100429400	Active TSS	Rectal Smooth Muscle	rectum
18	chr3:100427400-100429600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr3:100427400-100429800	Active TSS	Colonic Mucosa	Colon
20	chr3:100427400-100429800	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr3:100427400-100430000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr3:100427400-100430600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:100427600-100428000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:100427600-100428000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:100427600-100428000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr3:100427600-100428000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr3:100427600-100428000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr3:100427600-100428000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:100427600-100428000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr3:100427600-100428000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr3:100427600-100428000	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr3:100427600-100428000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr3:100427600-100428000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr3:100427600-100428000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr3:100427600-100428000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:100427600-100428000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:100427600-100428000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:100427600-100428000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:100427600-100428000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:100427600-100428000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:100427600-100428000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:100427600-100428000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr3:100427600-100428000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:100427600-100428000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:100427600-100428000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr3:100427600-100428000	Flanking Active TSS	Fetal Brain Female	brain
47	chr3:100427600-100428000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr3:100427600-100428000	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr3:100427600-100428000	Flanking Active TSS	Fetal Kidney	kidney
50	chr3:100427600-100428000	Flanking Active TSS	Fetal Lung	lung

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