Variant report

Variant	rs13317478
Chromosome Location	chr3:17464862-17464863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17463709..17467146-chr3:17467192..17469844,3	K562	blood:
2	chr3:17455901..17458583-chr3:17462176..17465120,2	K562	blood:
3	chr3:17463498..17465841-chr3:17880192..17882882,2	MCF-7	breast:
4	chr3:17459732..17461276-chr3:17463158..17466015,2	MCF-7	breast:
5	chr3:17464487..17468576-chr3:17470106..17473767,3	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10212255	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11713917	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11717644	1.00[ASN][1000 genomes]
rs11720653	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13093375	1.00[ASN][1000 genomes]
rs13095571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13318609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13320693	1.00[ASN][1000 genomes]
rs13321297	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13327810	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13353435	1.00[ASN][1000 genomes]
rs1375817	1.00[JPT][hapmap]
rs1375818	1.00[JPT][hapmap]
rs1449881	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1449884	1.00[ASN][1000 genomes]
rs1463218	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1545424	1.00[JPT][hapmap]
rs1597393	1.00[ASN][1000 genomes]
rs17043494	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17043539	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17043541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17273020	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2060628	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2060629	1.00[JPT][hapmap]
rs2084572	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2122368	1.00[ASN][1000 genomes]
rs2247106	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2348001	1.00[ASN][1000 genomes]
rs2348003	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2470349	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470583	1.00[JPT][hapmap]
rs2596636	1.00[JPT][hapmap]
rs2596637	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2596638	1.00[JPT][hapmap]
rs2596639	1.00[JPT][hapmap]
rs2596640	1.00[JPT][hapmap]
rs2596645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2596646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2596647	1.00[ASN][1000 genomes]
rs2596657	1.00[ASN][1000 genomes]
rs2596666	1.00[ASN][1000 genomes]
rs2596670	1.00[ASN][1000 genomes]
rs2596672	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2596674	1.00[CHB][hapmap]
rs2733481	1.00[ASN][1000 genomes]
rs2733485	1.00[JPT][hapmap]
rs2733493	1.00[ASN][1000 genomes]
rs2733494	1.00[ASN][1000 genomes]
rs2733495	1.00[JPT][hapmap]
rs2733497	1.00[JPT][hapmap]
rs2733498	1.00[JPT][hapmap]
rs2733499	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2733500	1.00[JPT][hapmap]
rs2733501	1.00[JPT][hapmap]
rs2733502	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2733508	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2733509	1.00[ASN][1000 genomes]
rs2733516	1.00[ASN][1000 genomes]
rs2733517	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733519	1.00[ASN][1000 genomes]
rs2733520	1.00[ASN][1000 genomes]
rs2733524	1.00[JPT][hapmap]
rs2733526	1.00[ASN][1000 genomes]
rs283908	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs283911	1.00[ASN][1000 genomes]
rs283917	1.00[JPT][hapmap]
rs283926	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs283930	1.00[JPT][hapmap]
rs283935	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs283939	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs283949	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34502358	1.00[ASN][1000 genomes]
rs34892692	1.00[ASN][1000 genomes]
rs6442681	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6442683	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6763681	1.00[CHB][hapmap]
rs6772394	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs67851870	1.00[ASN][1000 genomes]
rs6787756	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6788763	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6799259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7623979	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7630286	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7630433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7632989	1.00[ASN][1000 genomes]
rs7644020	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7644389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7645756	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7648883	1.00[ASN][1000 genomes]
rs7651278	1.00[ASN][1000 genomes]
rs767685	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9310523	1.00[ASN][1000 genomes]
rs9810675	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9812199	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9812906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9821955	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9824191	1.00[CHB][hapmap]
rs9847461	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9848610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9853571	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9854201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9870741	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880971	1.00[ASN][1000 genomes]
rs9881089	1.00[ASN][1000 genomes]
rs9881850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9883518	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876590	chr3:17230884-17604963	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2755406	chr3:17237396-17589896	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv876591	chr3:17246392-17671992	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv869378	chr3:17338236-17576692	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv915606	chr3:17357042-17668263	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv999568	chr3:17360261-17594750	Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv428080	chr3:17367870-17539943	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv876592	chr3:17369313-17604963	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2755442	chr3:17372796-17589896	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv589842	chr3:17381380-17538921	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1009700	chr3:17391240-17486671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv470439	chr3:17394615-17538921	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv589843	chr3:17412690-17525505	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv876593	chr3:17419843-17604963	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17411200-17467400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:17448000-17476800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:17448000-17506600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:17460600-17475600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:17461600-17476800	Weak transcription	Primary B cells from cord blood	blood
6	chr3:17462400-17521400	Weak transcription	Pancreas	Pancrea
7	chr3:17463000-17465000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:17463400-17465600	Weak transcription	A549	lung
9	chr3:17463600-17465600	Weak transcription	NHDF-Ad	bronchial
10	chr3:17463600-17466000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:17464800-17465400	Weak transcription	Fetal Heart	heart
12	chr3:17464800-17465800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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