Variant report

Variant	rs4851316
Chromosome Location	chr2:101052766-101052767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10175632	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs10183360	0.82[ASN][1000 genomes]
rs10188492	0.87[ASN][1000 genomes]
rs10191625	0.86[ASN][1000 genomes]
rs10195487	0.81[ASN][1000 genomes]
rs10195721	0.85[ASN][1000 genomes]
rs10195943	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs10210508	0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs10865040	0.81[ASN][1000 genomes]
rs11884976	0.89[JPT][hapmap]
rs11898188	0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs12613318	0.88[ASN][1000 genomes]
rs12616637	0.87[ASN][1000 genomes]
rs12617044	0.87[ASN][1000 genomes]
rs12618805	0.87[ASN][1000 genomes]
rs12623030	0.87[ASN][1000 genomes]
rs13383207	0.86[ASN][1000 genomes]
rs13383638	0.87[ASN][1000 genomes]
rs13384858	0.82[ASN][1000 genomes]
rs13385933	0.87[ASN][1000 genomes]
rs13386458	0.87[ASN][1000 genomes]
rs13389832	0.88[ASN][1000 genomes]
rs13395802	0.87[ASN][1000 genomes]
rs13398154	0.87[ASN][1000 genomes]
rs13398539	0.87[ASN][1000 genomes]
rs13399940	0.86[ASN][1000 genomes]
rs13400036	0.87[ASN][1000 genomes]
rs13402754	0.86[ASN][1000 genomes]
rs13408862	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs13411524	0.87[ASN][1000 genomes]
rs13413040	0.84[ASN][1000 genomes]
rs13415591	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs13416322	0.88[ASN][1000 genomes]
rs13416457	0.83[ASN][1000 genomes]
rs13419111	0.87[ASN][1000 genomes]
rs13425866	0.86[ASN][1000 genomes]
rs13427911	0.87[ASN][1000 genomes]
rs13430155	0.82[ASN][1000 genomes]
rs13430275	0.86[ASN][1000 genomes]
rs1437968	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1437974	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs1437977	0.87[ASN][1000 genomes]
rs2309861	0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2309863	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs28682285	0.82[ASN][1000 genomes]
rs28727573	0.84[ASN][1000 genomes]
rs35634085	0.83[ASN][1000 genomes]
rs4366926	0.87[ASN][1000 genomes]
rs4368352	0.86[ASN][1000 genomes]
rs4549109	0.87[ASN][1000 genomes]
rs4589783	0.89[ASN][1000 genomes]
rs55963083	0.86[ASN][1000 genomes]
rs56402605	0.87[ASN][1000 genomes]
rs57179311	0.87[ASN][1000 genomes]
rs60572723	0.87[ASN][1000 genomes]
rs61530065	0.87[ASN][1000 genomes]
rs6542954	0.82[ASN][1000 genomes]
rs6542955	0.82[ASN][1000 genomes]
rs6542956	0.82[ASN][1000 genomes]
rs6542960	0.80[ASN][1000 genomes]
rs6542962	0.80[ASN][1000 genomes]
rs6542963	0.80[ASN][1000 genomes]
rs6542965	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs6722896	0.89[JPT][hapmap]
rs6735337	0.82[ASN][1000 genomes]
rs6755846	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7561811	0.84[ASN][1000 genomes]
rs7565675	0.82[ASN][1000 genomes]
rs7568283	0.83[ASN][1000 genomes]
rs7568519	0.82[ASN][1000 genomes]
rs9653443	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs9653444	0.86[ASN][1000 genomes]
rs9653463	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1011990	chr2:101039956-101105648	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4851316	AFF3	cis	parietal	SCAN
rs4851316	CHST10	cis	parietal	SCAN
rs4851316	COX5B	cis	parietal	SCAN
rs4851316	ANKRD36B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101051200-101052800	Enhancers	Fetal Heart	heart

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