Variant report

Variant	rs37861
Chromosome Location	chr7:78422208-78422209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11981818	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1207884	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1207885	0.82[ASN][1000 genomes]
rs1207887	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs1209400	0.86[JPT][hapmap]
rs1209720	0.91[JPT][hapmap]
rs12705800	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2214557	0.95[JPT][hapmap]
rs246460	0.96[CEU][hapmap];0.82[CHB][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap]
rs246462	0.96[CEU][hapmap];0.82[CHB][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap]
rs37855	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs37858	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37859	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37876	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs37880	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs37883	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs37885	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs37886	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41495	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs489403	0.86[JPT][hapmap]
rs763518	0.95[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	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv949647	chr7:78406281-78495913	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs37861	PMS2L3	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78418400-78422600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:78421600-78422400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:78421600-78422600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:78421800-78422800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:78422000-78422600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:78422000-78423400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:78422200-78422600	Enhancers	Ovary	ovary

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