Variant report

Variant	rs1375613
Chromosome Location	chr2:142874253-142874254
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1001629	0.84[EUR][1000 genomes]
rs10190170	0.83[CHD][hapmap]
rs10193058	0.86[JPT][hapmap]
rs10496914	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10803487	0.80[CHB][hapmap]
rs10928134	0.83[CHD][hapmap]
rs11680286	0.84[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs11688838	0.81[CHB][hapmap]
rs11691560	0.85[CHD][hapmap]
rs11691595	0.85[CHD][hapmap]
rs12472834	0.89[ASN][1000 genomes]
rs12621782	0.83[CEU][hapmap]
rs12988578	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13024219	0.86[ASN][1000 genomes]
rs13036224	0.80[CHB][hapmap]
rs1349222	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1375609	0.86[CHD][hapmap]
rs1375611	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1375612	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1375614	0.89[ASN][1000 genomes]
rs1449475	0.81[CHB][hapmap]
rs1449477	0.84[CEU][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]
rs1449478	0.84[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs1449480	0.86[CHD][hapmap]
rs1449482	0.84[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs1449485	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1449489	0.81[CHB][hapmap]
rs1449490	0.81[CHB][hapmap]
rs1449498	0.80[CHB][hapmap]
rs1449499	0.81[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap]
rs1449501	0.81[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap]
rs1449503	0.80[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs1449504	0.81[CHB][hapmap]
rs1868543	0.80[CHB][hapmap]
rs1868544	0.81[CHB][hapmap]
rs1900933	0.81[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.98[TSI][hapmap]
rs1900936	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2029142	0.81[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap]
rs2060592	0.84[CHB][hapmap]
rs2218734	0.84[CEU][hapmap];0.81[CHB][hapmap]
rs2290140	0.93[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2381203	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4662219	0.86[CHD][hapmap]
rs4662370	0.83[CHD][hapmap]
rs4662373	0.84[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4662396	0.87[ASN][1000 genomes]
rs62155598	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62155638	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6707136	0.86[ASN][1000 genomes]
rs6744928	0.85[CHD][hapmap]
rs6754907	0.84[CEU][hapmap];0.81[CHB][hapmap]
rs7558803	0.93[GIH][hapmap];0.95[TSI][hapmap]
rs7566250	0.88[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs7605112	0.81[CHB][hapmap]
rs7609479	0.86[CHD][hapmap]
rs957376	0.84[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs9941495	0.81[CHB][hapmap]
rs997123	0.89[AFR][1000 genomes];0.80[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	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
5	esv3406901	chr2:142872007-142874855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3377796	chr2:142872232-142874580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3438080	chr2:142872682-142874280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142870000-142878400	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:142870800-142877400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:142871000-142874600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:142874200-142875200	Weak transcription	Brain Substantia Nigra	brain

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