Variant report

Variant	rs2931309
Chromosome Location	chr8:62096568-62096569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11777469	0.95[ASN][1000 genomes]
rs13249426	0.95[ASN][1000 genomes]
rs13253027	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13263981	1.00[ASN][1000 genomes]
rs13264358	0.85[ASN][1000 genomes]
rs13278769	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1367974	1.00[JPT][hapmap]
rs1817635	0.80[ASN][1000 genomes]
rs1946593	1.00[ASN][1000 genomes]
rs2052993	1.00[JPT][hapmap]
rs2129351	1.00[ASN][1000 genomes]
rs2919303	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2919305	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2931292	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2931312	0.80[ASN][1000 genomes]
rs2931322	1.00[JPT][hapmap]
rs2931323	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2931346	0.80[ASN][1000 genomes]
rs2978492	0.80[ASN][1000 genomes]
rs2978498	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2978542	0.80[ASN][1000 genomes]
rs2978543	0.80[ASN][1000 genomes]
rs2978558	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs35741212	1.00[ASN][1000 genomes]
rs35860978	1.00[ASN][1000 genomes]
rs4144413	0.95[ASN][1000 genomes]
rs6983455	1.00[JPT][hapmap]
rs7017483	1.00[JPT][hapmap]
rs7017626	1.00[JPT][hapmap]
rs956969	1.00[ASN][1000 genomes]
rs9650204	1.00[ASN][1000 genomes]
rs9650205	1.00[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1026243	chr8:62039073-62101123	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv890949	chr8:62073346-62141341	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2931309	CLVS1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62096400-62096800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:62096400-62097400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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