Variant report

Variant	rs4688679
Chromosome Location	chr3:50384758-50384759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:50384746-50384949	MCF-7	breast:	n/a	n/a
2	FOXA2	chr3:50384584-50385096	A549	lung:	n/a	n/a
3	CTCF	chr3:50384680-50384830	HFF	foreskin:	n/a	n/a
4	RUNX3	chr3:50384647-50384976	GM12878	blood:	n/a	n/a
5	TCF7L2	chr3:50384749-50385017	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr3:50384724-50384964	Hela-S3	cervix:	n/a	n/a
7	TBL1XR1	chr3:50384746-50384960	K562	blood:	n/a	n/a
8	CTCF	chr3:50384695-50384989	Spleen_OC	spleen:	n/a	n/a
9	FOS	chr3:50384556-50384917	MCF10A-Er-Src	breast:	n/a	chr3:50384737-50384748
10	CTCF	chr3:50384740-50384890	HEK293	kidney:	n/a	n/a
11	CTCF	chr3:50384694-50384976	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr3:50384734-50384940	GM10248	blood:	n/a	n/a
13	CTCF	chr3:50384645-50385048	IMR90	lung:	n/a	n/a
14	JUND	chr3:50384607-50384982	Hela-S3	cervix:	n/a	chr3:50384737-50384748
15	CTCF	chr3:50384472-50385324	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr3:50384750-50384961	Gliobla	brain:	n/a	n/a
17	CTCF	chr3:50384750-50384941	A549	lung:	n/a	n/a
18	RUNX3	chr3:50384600-50385046	GM12878	blood:	n/a	n/a
19	CTCF	chr3:50384716-50384963	LNCaP	prostate:	n/a	n/a
20	RAD21	chr3:50384589-50385095	SK-N-SH_RA	brain:	n/a	n/a
21	USF2	chr3:50384670-50384944	Hela-S3	cervix:	n/a	n/a
22	MAX	chr3:50384691-50385062	A549	lung:	n/a	n/a
23	MYC	chr3:50384688-50384957	K562	blood:	n/a	n/a
24	FOXA1	chr3:50384607-50385146	HepG2	liver:	n/a	n/a
25	ARID3A	chr3:50384632-50385015	K562	blood:	n/a	n/a
26	CTCF	chr3:50384707-50384955	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr3:50384728-50384960	MCF-7	breast:	n/a	n/a
28	RAD21	chr3:50384488-50385154	HCT-116	colon:	n/a	n/a
29	SMC3	chr3:50384684-50385043	GM12878	blood:	n/a	n/a
30	CTCF	chr3:50384740-50384890	HUVEC	blood vessel:	n/a	n/a
31	ARID3A	chr3:50384628-50385030	HepG2	liver:	n/a	n/a
32	CTCF	chr3:50384640-50385138	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:50384713-50384986	NHEK	skin:	n/a	n/a
34	RAD21	chr3:50384665-50385051	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr3:50384715-50384969	GM19239	blood:	n/a	n/a
36	SMC3	chr3:50384719-50385021	K562	blood:	n/a	n/a
37	SMC3	chr3:50384469-50385211	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr3:50384640-50385029	HepG2	liver:	n/a	n/a
39	CTCF	chr3:50384740-50384890	GM12872	blood:	n/a	n/a
40	BACH1	chr3:50384729-50385030	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr3:50384540-50385076	ECC-1	luminal epithelium:	n/a	n/a
42	RAD21	chr3:50384681-50385016	A549	lung:	n/a	n/a
43	FOSL2	chr3:50384580-50384942	HepG2	liver:	n/a	n/a
44	STAT3	chr3:50384650-50384931	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr3:50384755-50384959	T-47D	breast:	n/a	n/a
46	ZNF143	chr3:50384758-50384983	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr3:50384602-50385013	HepG2	liver:	n/a	chr3:50384737-50384748
48	MAZ	chr3:50384730-50384975	K562	blood:	n/a	n/a
49	POLR2A	chr3:50384725-50385285	GM12878	blood:	n/a	n/a
50	CTCF	chr3:50384729-50384963	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50383426..50385588-chr3:50395187..50397188,2	MCF-7	breast:
2	chr3:50357006..50359780-chr3:50383259..50385095,2	MCF-7	breast:
3	chr3:50364515..50367018-chr3:50382210..50385034,2	MCF-7	breast:
4	chr3:50384426..50385342-chr3:50425519..50426240,3	MCF-7	breast:
5	chr3:50384359..50385309-chr3:50587263..50587813,2	MCF-7	breast:
6	chr3:50371739..50377775-chr3:50378206..50384768,10	MCF-7	breast:
7	chr3:50384491..50385364-chr3:50453491..50454093,2	K562	blood:

No data

Variant related genes	Relation type
CYB561D2	TF binding region
ZMYND10	TF binding region
ENSG00000272104	TF binding region
ENSG00000068028	Chromatin interaction
ENSG00000068001	Chromatin interaction
ENSG00000114383	Chromatin interaction
ENSG00000126062	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1005678	0.81[CHB][hapmap]
rs11130248	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12054052	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12054403	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12485286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12485390	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12485909	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12487392	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12488235	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12488302	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490809	0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12490837	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12492683	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12492880	0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12493693	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12494414	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12495261	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12496815	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12497018	0.89[ASN][1000 genomes]
rs12498048	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12632110	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12721544	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2006199	0.95[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2071203	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071204	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071205	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071804	0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072053	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2072054	0.81[CHB][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs2073497	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073500	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2229647	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2233476	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233482	0.97[AFR][1000 genomes]
rs2236940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2236941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2236943	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2236946	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236949	0.88[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236950	0.82[JPT][hapmap]
rs2236986	0.85[AMR][1000 genomes]
rs2269430	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269568	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2269569	0.89[ASN][1000 genomes]
rs2282750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285043	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2285044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2298954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3213621	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35455589	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35587949	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3774736	0.82[EUR][1000 genomes]
rs3774739	0.85[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774741	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774748	0.81[AMR][1000 genomes]
rs3774752	0.90[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3774754	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3774755	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4141407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688682	1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688683	0.82[EUR][1000 genomes]
rs4688721	0.87[AMR][1000 genomes]
rs4688724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688725	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688728	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688732	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688734	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688736	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4688738	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688741	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688742	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688744	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688746	0.85[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4688747	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57944420	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57978992	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58137261	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58181992	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58191283	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58648044	0.84[ASN][1000 genomes]
rs59476380	0.89[AFR][1000 genomes]
rs59556423	0.91[AFR][1000 genomes]
rs60276643	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60983897	0.84[AFR][1000 genomes]
rs61737738	0.90[AFR][1000 genomes]
rs72932956	0.90[AFR][1000 genomes]
rs72932959	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72932962	0.91[AFR][1000 genomes]
rs72932964	0.91[AFR][1000 genomes]
rs72932983	0.91[AFR][1000 genomes]
rs72932987	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7611074	0.87[YRI][hapmap]
rs7645537	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs928946	0.91[AFR][1000 genomes]
rs9311449	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9681992	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9830408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9852677	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs9882618	1.00[EUR][1000 genomes]
rs9883222	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
12	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
13	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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	93 gene(s)	inside rSNPs	diseases
14	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
17	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
18	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
19	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
20	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription 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 miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4688679	HEMK	cis	multi-tissue	Pritchard
rs4688679	ZMYND10	cis	multi-tissue	Pritchard
rs4688679	CYB561D2	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50378600-50384800	Weak transcription	Dnd41	blood
2	chr3:50379000-50386800	Weak transcription	Small Intestine	intestine
3	chr3:50382600-50385200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:50383400-50384800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:50383400-50385000	Enhancers	Primary B cells from cord blood	blood
6	chr3:50383400-50385000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:50383400-50385000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:50383400-50385600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:50383400-50386800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:50383400-50386800	Weak transcription	Left Ventricle	heart
11	chr3:50383400-50387600	Weak transcription	Aorta	Aorta
12	chr3:50383600-50384800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:50383600-50384800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:50383600-50384800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:50383600-50384800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:50383600-50384800	Weak transcription	Liver	Liver
17	chr3:50383600-50384800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:50383600-50384800	Weak transcription	Esophagus	oesophagus
19	chr3:50383600-50384800	Weak transcription	Fetal Kidney	kidney
20	chr3:50383600-50384800	Weak transcription	Fetal Lung	lung
21	chr3:50383600-50384800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:50383600-50385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:50383600-50385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:50383600-50385000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:50383600-50385000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:50383600-50385000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:50383600-50385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:50383600-50385000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:50383600-50385000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:50383600-50385000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr3:50383600-50385000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:50383600-50385000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:50383600-50385000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:50383600-50385000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:50383600-50385000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:50383600-50385000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:50383600-50385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:50383600-50385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:50383600-50385000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:50383600-50385000	Weak transcription	Adipose Nuclei	Adipose
41	chr3:50383600-50385000	Weak transcription	Brain Angular Gyrus	brain
42	chr3:50383600-50385000	Weak transcription	Brain Anterior Caudate	brain
43	chr3:50383600-50385000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:50383600-50385000	Weak transcription	Brain Germinal Matrix	brain
45	chr3:50383600-50385000	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:50383600-50385000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:50383600-50385000	Weak transcription	Colonic Mucosa	Colon
48	chr3:50383600-50385000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:50383600-50385000	Weak transcription	Fetal Brain Female	brain
50	chr3:50383600-50385000	Weak transcription	Fetal Intestine Large	intestine

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