Variant report

Variant	rs823517
Chromosome Location	chr3:195268660-195268661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr3:195268475-195268753	K562	blood:	n/a	n/a
2	CHD1	chr3:195268585-195270313	GM12878	blood:	n/a	n/a
3	TBP	chr3:195268415-195269610	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:195268548-195270559	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195268648-195268698	Caco-2	colon:	n/a
2	chr3:195268648-195268698	RPTEC	kidney:	n/a
3	chr3:195268648-195268698	AG04450	lung:	fetal
4	chr3:195268648-195268698	PFSK-1	brain:	n/a
5	chr3:195268648-195268698	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:195268648-195268698	HepG2	liver:	n/a
7	chr3:195268648-195268698	AG09319	gingival:	n/a
8	chr3:195268648-195268698	ovcar-3	ovarian:	n/a
9	chr3:195268648-195268698	SAEC	small airway:	n/a
10	chr3:195268648-195268698	SKMC	muscle:	n/a
11	chr3:195268648-195268698	HCT-116	colon:	n/a
12	chr3:195268648-195268698	HCF	heart:	n/a
13	chr3:195268648-195268698	HIPEpiC	eye:	n/a
14	chr3:195268648-195268698	HCPEpiC	choroid plexus:	n/a
15	chr3:195268648-195268698	NH-A	brain:	n/a
16	chr3:195268648-195268698	GM12891	blood:	n/a
17	chr3:195268648-195268698	HRCEpiC	kidney:	n/a
18	chr3:195268648-195268698	NB4	blood:	n/a
19	chr3:195268648-195268698	IMR90	lung:	fetal
20	chr3:195268648-195268698	HEEpiC	esophagus:	n/a
21	chr3:195268648-195268698	K562	blood:	n/a
22	chr3:195268648-195268698	GM12892	blood:	n/a
23	chr3:195268648-195268698	SK-N-SH	brain:	n/a
24	chr3:195268648-195268698	H1-hESC	embryonic stem cell:	embryo
25	chr3:195268648-195268698	LNCaP	prostate:	n/a
26	chr3:195268648-195268698	NHBE	bronchial:	n/a
27	chr3:195268648-195268698	HNPCEpiC	eye:	n/a
28	chr3:195268648-195268698	BJ	skin:	n/a
29	chr3:195268648-195268698	Jurkat	blood:	n/a
30	chr3:195268648-195268698	MCF-7	breast:	n/a
31	chr3:195268648-195268698	HUVEC	blood vessel:	n/a
32	chr3:195268648-195268698	HRE	kidney:	n/a
33	chr3:195268648-195268698	AG04449	skin:	fetal
34	chr3:195268648-195268698	Hela-S3	cervix:	n/a
35	chr3:195268648-195268698	ECC-1	luminal epithelium:	n/a
36	chr3:195268648-195268698	AG09309	skin:	n/a
37	chr3:195268648-195268698	AG10803	skin:	n/a
38	chr3:195268648-195268698	CMK	blood:	n/a
39	chr3:195268648-195268698	NT2-D1	testis:	n/a
40	chr3:195268648-195268698	U87	brain:	n/a
41	chr3:195268648-195268698	HL-60	blood:	n/a
42	chr3:195268648-195268698	GM06990	blood:	n/a
43	chr3:195268648-195268698	HMEC	breast:	n/a
44	chr3:195268648-195268698	ProgFib	skin:	n/a
45	chr3:195268648-195268698	Hepatocyte	liver:	n/a
46	chr3:195268648-195268698	HCM	heart:	n/a
47	chr3:195268648-195268698	T-47D	breast:	n/a
48	chr3:195268648-195268698	HAEpiC	amniotic membrane:	n/a
49	chr3:195268648-195268698	AoSMC	blood vessel:	n/a
50	chr3:195268648-195268698	A549	lung:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194985883..194988240-chr3:195267670..195269662,2	K562	blood:
2	chr3:194391304..194393347-chr3:195266970..195269408,2	MCF-7	breast:
3	chr3:194990570..194993360-chr3:195266722..195269423,4	MCF-7	breast:
4	chr3:195255017..195257965-chr3:195268547..195270199,2	K562	blood:
5	chr3:194989426..194991874-chr3:195268477..195270198,3	MCF-7	breast:
6	chr3:195162201..195164559-chr3:195267983..195270079,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223711	TF binding region
ENSG00000223711	CpG island
ENSG00000114331	Chromatin interaction
ENSG00000173950	Chromatin interaction
ENSG00000041802	Chromatin interaction
ENSG00000184203	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1467282	1.00[ASN][1000 genomes]
rs17847363	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641358	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641361	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641379	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686446	0.80[AMR][1000 genomes]
rs28564334	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35792292	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4677687	1.00[ASN][1000 genomes]
rs4677689	1.00[ASN][1000 genomes]
rs62287557	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6605336	1.00[ASN][1000 genomes]
rs6605337	1.00[ASN][1000 genomes]
rs6801044	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7647318	1.00[ASN][1000 genomes]
rs823500	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs823501	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs823510	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs823511	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs823514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs823519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs823525	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs823526	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs862063	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs862064	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs862065	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
4	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
6	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
7	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
10	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription 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 miRNA	53 gene(s)	inside rSNPs	diseases
11	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription 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 miRNA	53 gene(s)	inside rSNPs	diseases
12	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
13	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
17	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
18	nsv829824	chr3:195131067-195286698	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	esv1845367	chr3:195175217-195486486	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
20	nsv1001387	chr3:195186128-195661538	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
21	esv1808194	chr3:195201080-195619882	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
22	esv1849415	chr3:195201080-195619882	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
23	esv1850702	chr3:195201080-195619882	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
24	nsv428102	chr3:195201080-195829426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
25	nsv428430	chr3:195201080-195829426	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
26	nsv878145	chr3:195201451-195279119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv1007617	chr3:195240812-195474751	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
28	esv2763776	chr3:195240824-195502119	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
29	nsv1010725	chr3:195249924-195459762	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
30	nsv1010480	chr3:195259254-195436069	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
31	nsv536879	chr3:195259254-195436069	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
32	nsv1007146	chr3:195259289-195442570	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
33	nsv1005951	chr3:195259289-195474751	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers 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 miRNA	32 gene(s)	inside rSNPs	diseases
34	nsv432518	chr3:195262521-195475989	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
35	nsv432517	chr3:195262521-195476085	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
36	nsv432516	chr3:195262521-195501938	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
37	nsv915895	chr3:195263824-195457677	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
38	nsv533198	chr3:195263979-195459589	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
39	nsv534205	chr3:195263987-195463502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs823517	TM4SF19	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195251800-195269200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:195264400-195269000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr3:195265000-195269200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:195265200-195269000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:195266200-195268800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:195266400-195270600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:195266600-195270400	Active TSS	GM12878-XiMat	blood
8	chr3:195266800-195269000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:195266800-195271000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr3:195267000-195268800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr3:195267400-195268800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:195267400-195269200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr3:195267400-195269200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr3:195267400-195270600	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr3:195267600-195269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:195267600-195269200	Weak transcription	Pancreas	Pancrea
17	chr3:195267600-195269600	Weak transcription	Spleen	Spleen
18	chr3:195267600-195270600	Active TSS	Primary T cells fromperipheralblood	blood
19	chr3:195267600-195270600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr3:195267800-195269200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr3:195267800-195269400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr3:195267800-195269400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:195267800-195269400	Flanking Active TSS	Dnd41	blood
24	chr3:195267800-195269600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:195267800-195270600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr3:195267800-195270600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:195268000-195268800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr3:195268000-195268800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:195268000-195268800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr3:195268000-195268800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr3:195268000-195268800	Flanking Active TSS	NHEK	skin
32	chr3:195268000-195269000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr3:195268000-195269200	Flanking Active TSS	Fetal Brain Female	brain
34	chr3:195268000-195269400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr3:195268000-195269600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:195268000-195270400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr3:195268000-195270400	Active TSS	Hela-S3	cervix
38	chr3:195268000-195270400	Active TSS	HMEC	breast
39	chr3:195268000-195270600	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr3:195268000-195270600	Active TSS	Fetal Intestine Small	intestine
41	chr3:195268000-195270600	Active TSS	Left Ventricle	heart
42	chr3:195268000-195270600	Active TSS	Right Atrium	heart
43	chr3:195268000-195270600	Active TSS	NHLF	lung
44	chr3:195268000-195270800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:195268000-195270800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:195268000-195270800	Active TSS	Ovary	ovary
47	chr3:195268000-195271000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:195268000-195271200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr3:195268200-195268800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:195268200-195268800	Active TSS	HepG2	liver

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