Variant report

Variant	rs4865159
Chromosome Location	chr4:57743937-57743938
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10008356	0.87[ASN][1000 genomes]
rs10030913	0.92[ASN][1000 genomes]
rs10866440	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10866441	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1105434	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1107675	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11730321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11730476	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11730525	0.94[ASN][1000 genomes]
rs11734953	0.92[ASN][1000 genomes]
rs11736192	0.82[ASN][1000 genomes]
rs11736869	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs11736965	0.83[ASN][1000 genomes]
rs11932673	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11933908	0.94[ASN][1000 genomes]
rs12500454	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12501224	0.81[ASN][1000 genomes]
rs12501990	0.84[ASN][1000 genomes]
rs1277287	1.00[JPT][hapmap]
rs13108245	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13113802	0.93[ASN][1000 genomes]
rs13116564	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13136432	0.81[ASN][1000 genomes]
rs13146960	0.90[ASN][1000 genomes]
rs13149162	0.93[ASN][1000 genomes]
rs13150593	0.81[ASN][1000 genomes]
rs13152476	0.81[ASN][1000 genomes]
rs13353552	0.90[ASN][1000 genomes]
rs1625691	1.00[JPT][hapmap]
rs17081937	1.00[JPT][hapmap]
rs17087317	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17087411	0.87[JPT][hapmap]
rs17087414	0.87[JPT][hapmap]
rs1718839	1.00[JPT][hapmap]
rs1877669	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2002153	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2090962	0.96[ASN][1000 genomes]
rs2228991	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs3000	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs34124552	0.81[ASN][1000 genomes]
rs34448457	0.81[ASN][1000 genomes]
rs35267092	0.81[ASN][1000 genomes]
rs3733306	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs3796528	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs3806745	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4276341	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4864606	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4864607	0.93[ASN][1000 genomes]
rs4864608	0.84[ASN][1000 genomes]
rs4865156	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4865157	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865158	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865160	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55822707	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56122758	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56309796	0.89[AFR][1000 genomes]
rs62308110	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62308111	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62308135	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62308136	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62308137	0.93[ASN][1000 genomes]
rs6554393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554397	0.94[ASN][1000 genomes]
rs6554398	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6816950	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6835102	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6835108	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6838948	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6839845	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6840805	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6847086	0.82[JPT][hapmap]
rs6852110	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6854420	0.94[ASN][1000 genomes]
rs6855212	0.96[ASN][1000 genomes]
rs6857005	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6857226	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6858216	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs729844	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73242609	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7661194	1.00[JPT][hapmap]
rs7666804	0.96[ASN][1000 genomes]
rs7667302	0.96[ASN][1000 genomes]
rs7680734	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7695970	0.94[ASN][1000 genomes]
rs781666	1.00[JPT][hapmap]
rs781668	1.00[JPT][hapmap]
rs899632	0.96[ASN][1000 genomes]
rs9684742	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9760540	0.95[AFR][1000 genomes]
rs9942208	0.88[CHB][hapmap];1.00[JPT][hapmap]

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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822561	chr4:57736121-57747867	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4865159	IGFBP7	cis	multi-tissue	Pritchard
rs4865159	WDR17	trans	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57738000-57744200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57738200-57746400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:57741400-57750800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:57741800-57745000	Weak transcription	GM12878-XiMat	blood

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