Variant report

Variant	rs3739319
Chromosome Location	chr8:39785321-39785322
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	chr8:39783610..39785515-chr8:39835256..39838149,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10085935	0.85[CEU][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10113563	0.92[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10216901	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504013	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10755980	0.95[EUR][1000 genomes]
rs10958573	0.95[EUR][1000 genomes]
rs10958574	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11773909	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11773975	0.94[EUR][1000 genomes]
rs11777082	0.94[EUR][1000 genomes]
rs11779313	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779697	0.94[EUR][1000 genomes]
rs11779700	0.94[EUR][1000 genomes]
rs11781217	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11786337	0.94[EUR][1000 genomes]
rs11787388	0.95[EUR][1000 genomes]
rs11787449	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11992749	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994259	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2052377	0.84[EUR][1000 genomes]
rs2052379	0.83[EUR][1000 genomes]
rs2111741	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2160860	0.84[EUR][1000 genomes]
rs2340952	0.84[EUR][1000 genomes]
rs2543044	0.84[EUR][1000 genomes]
rs2543046	0.84[EUR][1000 genomes]
rs2543047	0.84[EUR][1000 genomes]
rs2543049	0.84[EUR][1000 genomes]
rs2543050	0.84[EUR][1000 genomes]
rs2729456	0.84[EUR][1000 genomes]
rs2729459	0.84[EUR][1000 genomes]
rs2729460	0.84[EUR][1000 genomes]
rs2729462	0.84[EUR][1000 genomes]
rs2729476	0.83[EUR][1000 genomes]
rs28841363	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35995308	0.95[EUR][1000 genomes]
rs55698142	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55818481	0.95[EUR][1000 genomes]
rs55992954	0.91[EUR][1000 genomes]
rs56045817	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56838465	0.91[EUR][1000 genomes]
rs59312250	0.89[EUR][1000 genomes]
rs59445010	0.92[EUR][1000 genomes]
rs62512638	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6474194	0.94[EUR][1000 genomes]
rs6474195	0.92[EUR][1000 genomes]
rs6474196	0.92[EUR][1000 genomes]
rs6983463	0.89[EUR][1000 genomes]
rs6983940	0.88[EUR][1000 genomes]
rs6984887	0.91[EUR][1000 genomes]
rs7000868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7003411	0.94[EUR][1000 genomes]
rs7013824	0.86[EUR][1000 genomes]
rs7824841	0.95[EUR][1000 genomes]
rs7828760	0.90[EUR][1000 genomes]
rs7832080	0.95[EUR][1000 genomes]
rs7839881	0.95[EUR][1000 genomes]
rs7839885	0.95[EUR][1000 genomes]
rs7845003	0.95[EUR][1000 genomes]
rs7845418	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv508505	chr8:39730094-39791331	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3739319	PROSC	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39771600-39797200	Weak transcription	Right Atrium	heart
2	chr8:39781000-39786000	Strong transcription	H1 Cell Line	embryonic stem cell
3	chr8:39782400-39787000	Weak transcription	HUVEC	blood vessel
4	chr8:39782600-39785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:39782800-39785800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:39782800-39786000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:39782800-39790000	Weak transcription	Fetal Lung	lung
8	chr8:39783000-39785800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:39783000-39787200	Weak transcription	K562	blood
10	chr8:39783000-39792000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:39783200-39790800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:39783600-39786000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:39783800-39785600	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr8:39783800-39785600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:39783800-39785800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:39784600-39786000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:39785000-39785800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:39785200-39785600	Enhancers	Fetal Muscle Leg	muscle

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