Variant report

Variant	rs11994259
Chromosome Location	chr8:39791746-39791747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085935	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10113563	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10216901	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10504013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755980	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10958573	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10958574	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11773909	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11773975	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11777082	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11779313	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11779697	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11779700	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11781217	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11786337	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11787388	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11787449	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11992749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052377	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2052379	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2111741	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2160860	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2340952	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2543042	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2543044	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2543046	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2543047	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2543049	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2543050	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2729456	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2729459	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2729460	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2729462	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2729476	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28841363	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35995308	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3739319	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55698142	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55818481	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55992954	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56045817	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838465	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59312250	0.93[EUR][1000 genomes]
rs59445010	0.96[EUR][1000 genomes]
rs62512638	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6474194	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6474195	0.96[EUR][1000 genomes]
rs6474196	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6474197	0.82[EUR][1000 genomes]
rs6983463	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6983940	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984887	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7000868	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003411	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7013824	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7824841	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7828760	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7832080	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7839881	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7839885	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7845003	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7845418	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39771600-39797200	Weak transcription	Right Atrium	heart
2	chr8:39783000-39792000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:39785600-39792000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:39785600-39805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:39785800-39792000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:39788200-39793800	Weak transcription	K562	blood
7	chr8:39790400-39792400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:39790600-39792400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:39790800-39792000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:39790800-39792200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:39790800-39792200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:39791000-39792600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:39791000-39792800	Enhancers	Fetal Lung	lung
14	chr8:39791000-39793200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:39791600-39792200	Weak transcription	H1 Cell Line	embryonic stem cell

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