Variant report

Variant	rs4910765
Chromosome Location	chr11:5383403-5383404
allele	G/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	BHLHE40	chr11:5383352-5383583	K562	blood:	n/a	n/a
2	GATA3	chr11:5383289-5383955	SK-N-SH	brain:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
3	GATA2	chr11:5383292-5384109	HUVEC	blood vessel:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383782-5383796 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
4	GATA3	chr11:5383278-5384003	SK-N-SH	brain:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
5	PRDM1	chr11:5383345-5383590	Hela-S3	cervix:	n/a	chr11:5383479-5383494 chr11:5383434-5383449
6	EP300	chr11:5383298-5383498	K562	blood:	n/a	n/a
7	POLR2A	chr11:5383391-5383426	K562	blood:	n/a	n/a
8	RCOR1	chr11:5383274-5383676	K562	blood:	n/a	n/a
9	EP300	chr11:5383370-5383809	Hela-S3	cervix:	n/a	n/a
10	TBL1XR1	chr11:5383337-5383522	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5382803..5384303-chr11:62607722..62610627,2	K562	blood:
2	11:5250847-5268367..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo
3	11:4789513-4794705..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000236248	TF binding region
ENSG00000260629	Chromatin interaction
ENSG00000223609	Chromatin interaction
ENSG00000188069	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000229988	Chromatin interaction

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10768828	1.00[JPT][hapmap]
rs10768830	1.00[JPT][hapmap]
rs10837867	1.00[JPT][hapmap]
rs10837868	1.00[JPT][hapmap]
rs10837870	1.00[JPT][hapmap]
rs10837871	1.00[JPT][hapmap]
rs10837872	1.00[JPT][hapmap]
rs10837873	1.00[JPT][hapmap]
rs10837874	1.00[JPT][hapmap]
rs10837950	1.00[JPT][hapmap]
rs10837953	0.90[JPT][hapmap]
rs10837965	1.00[JPT][hapmap]
rs10837995	1.00[JPT][hapmap]
rs11036912	0.82[JPT][hapmap]
rs11036923	1.00[JPT][hapmap]
rs11036924	1.00[JPT][hapmap]
rs11036925	1.00[JPT][hapmap]
rs11036927	1.00[JPT][hapmap]
rs11036930	1.00[JPT][hapmap]
rs11036936	1.00[JPT][hapmap]
rs11036968	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11037129	1.00[JPT][hapmap]
rs11037137	1.00[JPT][hapmap]
rs11037143	1.00[JPT][hapmap]
rs11037144	1.00[JPT][hapmap]
rs11037145	1.00[JPT][hapmap]
rs11037150	1.00[JPT][hapmap]
rs11037152	1.00[JPT][hapmap]
rs11037153	1.00[JPT][hapmap]
rs11037178	1.00[JPT][hapmap]
rs11037215	1.00[JPT][hapmap]
rs11601176	1.00[JPT][hapmap]
rs11601662	0.89[JPT][hapmap]
rs11603059	1.00[JPT][hapmap]
rs11604159	1.00[JPT][hapmap]
rs11604201	1.00[JPT][hapmap]
rs11604520	1.00[JPT][hapmap]
rs11604556	1.00[JPT][hapmap]
rs11604883	1.00[JPT][hapmap]
rs11607365	1.00[JPT][hapmap]
rs11825642	0.81[ASN][1000 genomes]
rs11826532	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11827244	0.81[ASN][1000 genomes]
rs12273734	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12275713	1.00[JPT][hapmap]
rs12360697	1.00[JPT][hapmap]
rs12364011	1.00[JPT][hapmap]
rs12365474	1.00[JPT][hapmap]
rs12794414	0.80[EUR][1000 genomes]
rs12796030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801179	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802814	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12803469	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16913820	1.00[JPT][hapmap]
rs17270517	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17270776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270818	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270894	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271552	1.00[JPT][hapmap]
rs17271573	0.91[JPT][hapmap]
rs17355388	0.85[CEU][hapmap];0.88[CHB][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17355605	1.00[JPT][hapmap]
rs17356445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356507	1.00[JPT][hapmap]
rs17356535	1.00[JPT][hapmap]
rs1846319	1.00[JPT][hapmap]
rs1846320	1.00[JPT][hapmap]
rs1909257	1.00[JPT][hapmap]
rs2340316	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2340323	0.88[JPT][hapmap]
rs2467229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2467232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647598	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2647599	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2647600	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2647601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2647604	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647605	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2723380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723387	0.87[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2736553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736554	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2736557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736560	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736561	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736562	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736563	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736564	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736565	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4078480	1.00[JPT][hapmap]
rs4255565	1.00[JPT][hapmap]
rs4269953	1.00[JPT][hapmap]
rs4304811	1.00[JPT][hapmap]
rs4312094	0.82[JPT][hapmap]
rs4326830	1.00[JPT][hapmap]
rs4345997	1.00[JPT][hapmap]
rs4463873	1.00[JPT][hapmap]
rs4492850	1.00[JPT][hapmap]
rs4495917	1.00[JPT][hapmap]
rs4623930	1.00[JPT][hapmap]
rs4910551	0.82[JPT][hapmap]
rs4910552	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910757	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910760	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910762	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910763	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910768	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910770	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4910777	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5024037	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6578611	0.82[JPT][hapmap]
rs7106330	1.00[JPT][hapmap]
rs7109909	1.00[JPT][hapmap]
rs7113291	1.00[JPT][hapmap]
rs7114155	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7116471	1.00[JPT][hapmap]
rs715792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728925	1.00[JPT][hapmap]
rs7483786	1.00[JPT][hapmap]
rs7929631	1.00[JPT][hapmap]
rs7930818	1.00[JPT][hapmap]
rs7942877	1.00[JPT][hapmap]
rs884222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9704788	0.81[AMR][1000 genomes];0.85[EUR][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	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv18780	chr11:5372010-5384809	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1829102	chr11:5373646-5383453	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	esv1828484	chr11:5374268-5386668	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1829886	chr11:5374268-5386668	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
10	esv1832580	chr11:5376038-5383707	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv983147	chr11:5376861-5392760	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv18784	chr11:5382725-5384075	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv21298	chr11:5382725-5385843	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv553233	chr11:5382771-5383587	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv553234	chr11:5382771-5383778	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	esv997323	chr11:5382785-5383930	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv553235	chr11:5383015-5383587	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv553236	chr11:5383015-5383707	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv553237	chr11:5383015-5383798	Strong transcription Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
20	nsv553238	chr11:5383015-5383930	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5382600-5383600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5382600-5384000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:5382800-5384000	Enhancers	Hela-S3	cervix
4	chr11:5382800-5384200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:5382800-5385600	Enhancers	NHDF-Ad	bronchial
6	chr11:5383000-5386600	Enhancers	NH-A	brain
7	chr11:5383000-5387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:5383200-5383800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:5383200-5383800	Enhancers	NHLF	lung
10	chr11:5383200-5388400	Genic enhancers	K562	blood
11	chr11:5383400-5383600	Enhancers	HUVEC	blood vessel
12	chr11:5383400-5383800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:5383400-5384200	Weak transcription	Osteobl	bone

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