Variant report

Variant	rs2236985
Chromosome Location	chr3:50501365-50501366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1034409	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs12494414	1.00[MKK][hapmap]
rs2157328	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs2187815	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs2236966	0.97[ASN][1000 genomes]
rs2236969	0.97[ASN][1000 genomes]
rs2236970	0.97[ASN][1000 genomes]
rs2236972	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2236976	0.94[ASN][1000 genomes]
rs2236977	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2236978	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2236980	0.97[ASN][1000 genomes]
rs2236982	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs2236990	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2282757	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs2282761	0.97[ASN][1000 genomes]
rs28428559	0.97[ASN][1000 genomes]
rs28493735	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs28580410	0.97[ASN][1000 genomes]
rs3213520	0.97[ASN][1000 genomes]
rs3213620	1.00[MEX][hapmap]
rs58462551	0.94[ASN][1000 genomes]
rs59167171	0.94[ASN][1000 genomes]
rs59619552	0.97[ASN][1000 genomes]
rs60391761	0.97[ASN][1000 genomes]
rs60697422	1.00[ASN][1000 genomes]
rs61493458	0.97[ASN][1000 genomes]
rs6767505	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs73833363	0.97[ASN][1000 genomes]
rs73835503	1.00[ASN][1000 genomes]
rs743754	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs743859	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs7626470	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs7642779	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7647409	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs7649603	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9311451	0.94[ASN][1000 genomes]
rs9311453	1.00[ASN][1000 genomes]
rs9311455	1.00[ASN][1000 genomes]
rs9812540	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9814606	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9817768	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9828829	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9832993	0.97[ASN][1000 genomes]
rs9834579	0.94[ASN][1000 genomes]
rs9834856	0.94[ASN][1000 genomes]
rs9837658	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9837861	0.91[ASN][1000 genomes]
rs9839266	0.94[ASN][1000 genomes]
rs9839996	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9843693	0.97[ASN][1000 genomes]
rs9854585	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9863307	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9863857	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9875233	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9880285	0.97[ASN][1000 genomes]
rs9883635	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs9990256	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr3:50488600-50511200	Weak transcription	Lung	lung
2	chr3:50492600-50528400	Weak transcription	Gastric	stomach
3	chr3:50493000-50518600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:50493800-50518800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:50494000-50502000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:50494200-50502000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:50494200-50502200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:50496400-50511600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:50501000-50503600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:50501200-50501400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:50501200-50502000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:50501200-50503000	Enhancers	Fetal Muscle Leg	muscle
13	chr3:50501200-50503200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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