Variant report

Variant	rs4325250
Chromosome Location	chr10:97675319-97675320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10509695	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs10509696	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10786247	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs10882698	0.91[CEU][hapmap];0.82[CHB][hapmap]
rs11188530	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11188531	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs11819621	0.89[JPT][hapmap]
rs11819652	0.81[JPT][hapmap]
rs12359343	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs12411569	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs17382898	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs4344425	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs4391761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4918976	0.96[EUR][1000 genomes]
rs56365500	0.83[EUR][1000 genomes]
rs7074866	0.85[AMR][1000 genomes]
rs7895056	0.82[CHB][hapmap]
rs7907476	0.89[JPT][hapmap]
rs7909124	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4325250	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs4325250	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL
rs4325250	ENTPD1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97668200-97693600	Weak transcription	Fetal Stomach	stomach
2	chr10:97674200-97675400	Weak transcription	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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