Variant report

Variant	rs970601
Chromosome Location	chr2:142878627-142878628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10175827	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179841	1.00[CEU][hapmap]
rs10190170	0.89[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs10193058	0.92[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs10496912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10496913	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11686843	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11693460	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12613064	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap]
rs12613097	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap]
rs12619411	0.94[CEU][hapmap]
rs13429550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1375606	1.00[CEU][hapmap]
rs1375611	0.90[JPT][hapmap]
rs1449479	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[GIH][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap]
rs1449480	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs16848074	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs16848107	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap]
rs17826042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1900936	0.92[JPT][hapmap]
rs2290140	0.92[JPT][hapmap]
rs2290141	0.82[ASN][1000 genomes]
rs4662219	0.85[JPT][hapmap]
rs7586417	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap]
rs7609479	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs970600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973706	1.00[CEU][hapmap];0.83[CHB][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	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875254	chr2:142833327-142931146	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142877800-142879200	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr2:142877800-142884000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:142878200-142879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:142878200-142886800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:142878400-142878800	Enhancers	Brain Hippocampus Middle	brain
6	chr2:142878400-142883400	Weak transcription	Brain Anterior Caudate	brain
7	chr2:142878600-142879400	Enhancers	Brain Substantia Nigra	brain

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