Variant report

Variant	rs17085426
Chromosome Location	chr5:95373029-95373030
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	chr5:95359766..95362858-chr5:95371780..95373834,3	MCF-7	breast:
2	chr5:95372818..95374675-chr5:95378795..95380652,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10428657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10428702	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515231	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs10515233	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs10515234	1.00[EUR][1000 genomes]
rs11948037	0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12514954	1.00[EUR][1000 genomes]
rs12515492	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs12517786	1.00[EUR][1000 genomes]
rs12522489	0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12523306	1.00[EUR][1000 genomes]
rs17085220	1.00[EUR][1000 genomes]
rs17085223	1.00[EUR][1000 genomes]
rs17085224	0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17085227	0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17085243	1.00[EUR][1000 genomes]
rs17085339	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085366	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085373	0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17085393	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs2161317	0.82[JPT][hapmap]
rs28521883	1.00[EUR][1000 genomes]
rs3756701	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs3777174	0.85[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs3777176	1.00[EUR][1000 genomes]
rs3777177	1.00[EUR][1000 genomes]
rs3777180	1.00[EUR][1000 genomes]
rs41276261	1.00[EUR][1000 genomes]
rs55763081	1.00[EUR][1000 genomes]
rs56776515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58389685	1.00[EUR][1000 genomes]
rs60908902	1.00[EUR][1000 genomes]
rs61268106	1.00[EUR][1000 genomes]
rs6143071	1.00[EUR][1000 genomes]
rs6556897	1.00[EUR][1000 genomes]
rs6861075	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs6870388	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6872006	1.00[EUR][1000 genomes]
rs6874371	1.00[EUR][1000 genomes]
rs6891082	1.00[EUR][1000 genomes]
rs6891633	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs6893788	1.00[EUR][1000 genomes]
rs73771827	1.00[EUR][1000 genomes]
rs7700606	1.00[EUR][1000 genomes]
rs7724475	1.00[EUR][1000 genomes]
rs7736480	1.00[EUR][1000 genomes]
rs9687631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977128	1.00[EUR][1000 genomes]
rs977129	1.00[EUR][1000 genomes]
rs981011	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95358600-95373400	Weak transcription	Aorta	Aorta
2	chr5:95371000-95373200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:95371200-95373200	Enhancers	HMEC	breast
4	chr5:95371200-95373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:95371200-95373800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:95371200-95373800	Enhancers	Stomach Mucosa	stomach
7	chr5:95371400-95373600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:95371400-95373600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:95371400-95373600	Enhancers	Hela-S3	cervix
10	chr5:95371600-95373400	Weak transcription	Gastric	stomach
11	chr5:95371800-95373600	Enhancers	NHEK	skin
12	chr5:95371800-95383400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:95372000-95373800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:95372200-95373600	Enhancers	Osteobl	bone
15	chr5:95372400-95373400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:95372400-95373600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:95372600-95373200	Enhancers	HSMM	muscle
18	chr5:95372600-95373600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:95372600-95373600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:95372800-95373200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:95372800-95373200	Enhancers	HepG2	liver
22	chr5:95372800-95373600	Enhancers	Pancreas	Pancrea
23	chr5:95372800-95373600	Flanking Active TSS	A549	lung

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