Variant report

Variant	rs11631616
Chromosome Location	chr15:40444688-40444689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1031963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031964	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518681	0.94[ASN][1000 genomes]
rs10518682	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11070253	0.96[ASN][1000 genomes]
rs11630664	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11632939	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11634065	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11636204	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636293	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637555	0.92[ASN][1000 genomes]
rs11854027	0.96[ASN][1000 genomes]
rs11854103	0.96[ASN][1000 genomes]
rs11854965	0.96[ASN][1000 genomes]
rs12898627	0.87[ASN][1000 genomes]
rs12898804	0.93[ASN][1000 genomes]
rs12899102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12899779	0.87[ASN][1000 genomes]
rs12901947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902191	0.94[ASN][1000 genomes]
rs12902458	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12903940	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12905742	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908093	0.96[ASN][1000 genomes]
rs12909888	0.93[ASN][1000 genomes]
rs12910199	0.91[ASN][1000 genomes]
rs12912902	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12912982	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12913620	0.84[ASN][1000 genomes]
rs12913741	0.84[ASN][1000 genomes]
rs12913803	0.84[ASN][1000 genomes]
rs12913994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12915249	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12916805	0.96[ASN][1000 genomes]
rs12916901	0.94[ASN][1000 genomes]
rs1471583	0.89[ASN][1000 genomes]
rs1565863	0.94[ASN][1000 genomes]
rs1565864	0.94[ASN][1000 genomes]
rs1565865	0.94[ASN][1000 genomes]
rs1565866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16970409	0.96[ASN][1000 genomes]
rs1845477	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2002425	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128013	0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2172742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2277560	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2305653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2412480	0.94[ASN][1000 genomes]
rs2898988	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34191615	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34358001	0.94[ASN][1000 genomes]
rs34823877	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759842	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244573	0.93[ASN][1000 genomes]
rs4244574	0.94[ASN][1000 genomes]
rs4923856	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4924419	0.86[ASN][1000 genomes]
rs4924420	0.83[ASN][1000 genomes]
rs4924422	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924424	0.94[ASN][1000 genomes]
rs4924425	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924427	0.97[ASN][1000 genomes]
rs4924428	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924430	0.97[ASN][1000 genomes]
rs62020024	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162894	0.93[ASN][1000 genomes]
rs7163546	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7164047	0.94[ASN][1000 genomes]
rs7164783	0.93[ASN][1000 genomes]
rs7169842	0.93[ASN][1000 genomes]
rs7170412	0.87[ASN][1000 genomes]
rs7180335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7495483	0.93[ASN][1000 genomes]
rs8023395	0.90[ASN][1000 genomes]
rs8026738	0.97[ASN][1000 genomes]
rs8043080	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs876821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3423229	chr15:40417126-40447686	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3500491	chr15:40417175-40446353	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3500492	chr15:40417175-40446353	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40438400-40446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:40438800-40446800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:40440200-40446800	Weak transcription	Pancreas	Pancrea
4	chr15:40441800-40445000	Enhancers	HMEC	breast
5	chr15:40441800-40445200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:40441800-40445200	Enhancers	NHEK	skin
7	chr15:40442000-40445200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:40442600-40446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:40442800-40448200	Weak transcription	Fetal Kidney	kidney
10	chr15:40443000-40446200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:40443000-40447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:40443000-40447600	Weak transcription	Stomach Mucosa	stomach
13	chr15:40443200-40446400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:40443200-40452800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:40444000-40445800	Weak transcription	Placenta	Placenta
16	chr15:40444400-40446600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:40444400-40448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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