Variant report

Variant	rs8036176
Chromosome Location	chr15:31175269-31175270
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1043742	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1056118	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1088473	0.87[EUR][1000 genomes]
rs1105541	0.81[EUR][1000 genomes]
rs11293	1.00[JPT][hapmap]
rs11629793	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11632229	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11635775	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636942	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637469	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12148903	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917508	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474380	1.00[JPT][hapmap]
rs16956447	1.00[JPT][hapmap]
rs16956455	1.00[JPT][hapmap]
rs1852035	0.82[EUR][1000 genomes]
rs1917421	0.82[EUR][1000 genomes]
rs1983459	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2001686	0.81[EUR][1000 genomes]
rs2177670	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293317	1.00[JPT][hapmap]
rs2339114	0.82[EUR][1000 genomes]
rs2524998	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691683	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28664821	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955777	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2955797	1.00[JPT][hapmap]
rs2959036	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2959037	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3122	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34218876	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34520008	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34722914	0.81[EUR][1000 genomes]
rs35098644	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3512	1.00[JPT][hapmap]
rs35639533	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36047941	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784590	1.00[JPT][hapmap]
rs3817498	1.00[JPT][hapmap]
rs4556757	0.82[EUR][1000 genomes]
rs4779496	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779497	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779498	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779776	1.00[CHB][hapmap]
rs4779785	1.00[CHB][hapmap]
rs4779790	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62000188	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711224	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7168641	1.00[JPT][hapmap]
rs7171208	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7174744	0.88[EUR][1000 genomes]
rs7176569	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7179234	1.00[JPT][hapmap]
rs798080	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs798084	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs798086	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs798125	0.87[EUR][1000 genomes]
rs798127	0.87[EUR][1000 genomes]
rs8028173	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031106	1.00[CHB][hapmap]
rs8034856	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs8035703	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760022	chr15:30292944-31177476	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
2	nsv903757	chr15:30369153-31179534	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv427955	chr15:30467980-31273174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv1052897	chr15:30501813-31184303	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	esv2757593	chr15:30605836-31177476	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv533434	chr15:30938215-31244225	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1044683	chr15:30954725-31183908	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv542300	chr15:30954725-31183908	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv529701	chr15:30954726-31183907	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers 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	84 gene(s)	inside rSNPs	diseases
14	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
16	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
17	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
18	nsv1039037	chr15:31140415-31277268	Strong transcription ZNF genes & repeats Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv542309	chr15:31140415-31277268	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
21	nsv521842	chr15:31140700-31272670	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
22	nsv974548	chr15:31174187-31175287	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8036176	RP11-540B6.2	cis	Whole Blood	GTEx
rs8036176	RP11-540B6.2	cis	lung	GTEx
rs8036176	GABRB3	cis	parietal	SCAN
rs8036176	RP11-540B6.3	cis	lung	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31132800-31195600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:31157400-31177600	Weak transcription	Spleen	Spleen
3	chr15:31168400-31177600	Weak transcription	Dnd41	blood
4	chr15:31173600-31181400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:31174200-31178000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:31175000-31175400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr15:31175000-31175400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr15:31175200-31175400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:31175200-31175600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr15:31175200-31175600	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr15:31175200-31175600	Enhancers	Thymus	Thymus

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