Variant report

Variant	rs283926
Chromosome Location	chr3:17357820-17357821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17356582..17359217-chr3:17376177..17378852,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

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	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]
rs13317478	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]
rs13318609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13320693	1.00[ASN][1000 genomes]
rs13321297	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]
rs1449883	1.00[JPT][hapmap]
rs1449884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1449886	1.00[JPT][hapmap]
rs1463218	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1463221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1545424	1.00[JPT][hapmap]
rs1597393	1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.92[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[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2247106	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2348001	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2348003	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2470349	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[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]
rs2596656	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2596657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2596664	1.00[JPT][hapmap]
rs2596665	1.00[JPT][hapmap]
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[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2733517	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733518	1.00[JPT][hapmap]
rs2733519	1.00[ASN][1000 genomes]
rs2733520	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2733521	1.00[JPT][hapmap]
rs2733524	1.00[JPT][hapmap]
rs2733526	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2733527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2733528	1.00[JPT][hapmap]
rs2733529	1.00[JPT][hapmap]
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]
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	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[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]
rs7617933	1.00[JPT][hapmap]
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]
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]
rs9824191	1.00[CHB][hapmap]
rs9848610	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	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:5 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17255200-17363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:17298800-17373000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:17330800-17381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:17333000-17360400	Weak transcription	GM12878-XiMat	blood
5	chr3:17333400-17363400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:17333400-17372000	Weak transcription	Liver	Liver
7	chr3:17333400-17376000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:17339400-17442200	Weak transcription	Fetal Intestine Small	intestine
9	chr3:17340600-17362600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:17342600-17364400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:17343200-17363600	Weak transcription	Primary T cells from cord blood	blood
12	chr3:17343400-17363200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:17344400-17439000	Weak transcription	Aorta	Aorta
14	chr3:17345800-17364000	Weak transcription	Brain Substantia Nigra	brain
15	chr3:17347800-17364000	Weak transcription	Primary B cells from cord blood	blood
16	chr3:17349400-17364400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:17349600-17364000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:17352000-17377600	Weak transcription	Dnd41	blood
19	chr3:17352200-17370800	Weak transcription	Fetal Lung	lung
20	chr3:17354800-17381600	Weak transcription	Ovary	ovary
21	chr3:17356200-17412800	Weak transcription	Left Ventricle	heart
22	chr3:17356400-17360600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:17356800-17390000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:17357200-17358400	Enhancers	K562	blood
25	chr3:17357400-17358200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:17357600-17358000	Enhancers	Adipose Nuclei	Adipose
27	chr3:17357800-17358200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:17357800-17358400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr3:17357800-17360600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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