Variant report

Variant	rs57950795
Chromosome Location	chr2:40878558-40878559
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1003616	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1003617	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10048831	0.86[EUR][1000 genomes]
rs10201594	0.86[ASN][1000 genomes]
rs10204982	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206098	0.86[ASN][1000 genomes]
rs10209336	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10445883	0.81[ASN][1000 genomes]
rs10490260	0.86[EUR][1000 genomes]
rs10490261	0.86[EUR][1000 genomes]
rs11124752	0.85[ASN][1000 genomes]
rs11124753	0.81[EUR][1000 genomes]
rs11124759	0.86[ASN][1000 genomes]
rs11682329	0.87[ASN][1000 genomes]
rs11682367	0.87[ASN][1000 genomes]
rs11885458	0.90[ASN][1000 genomes]
rs11891229	0.90[ASN][1000 genomes]
rs11891709	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12463635	0.82[EUR][1000 genomes]
rs12469284	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469493	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12474038	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474649	0.85[EUR][1000 genomes]
rs12477533	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712699	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12712700	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12986905	0.86[ASN][1000 genomes]
rs13004542	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13022083	0.86[ASN][1000 genomes]
rs13023675	0.84[ASN][1000 genomes]
rs13023757	0.80[ASN][1000 genomes]
rs13031824	0.85[ASN][1000 genomes]
rs13422403	0.81[EUR][1000 genomes]
rs17026478	0.88[EUR][1000 genomes]
rs17026493	0.88[EUR][1000 genomes]
rs17026498	0.86[EUR][1000 genomes]
rs17026547	0.81[EUR][1000 genomes]
rs17039019	0.86[EUR][1000 genomes]
rs173800	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17479653	0.87[EUR][1000 genomes]
rs1861302	0.90[EUR][1000 genomes]
rs2216044	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2216045	0.80[EUR][1000 genomes]
rs2373903	0.82[EUR][1000 genomes]
rs2888698	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3851315	0.82[EUR][1000 genomes]
rs3851317	0.87[EUR][1000 genomes]
rs4101520	0.81[ASN][1000 genomes]
rs42786	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs42789	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4383382	0.80[ASN][1000 genomes]
rs4387847	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4528809	0.83[ASN][1000 genomes]
rs53534	0.89[ASN][1000 genomes]
rs55670471	0.89[EUR][1000 genomes]
rs56321003	0.89[EUR][1000 genomes]
rs56342806	0.83[EUR][1000 genomes]
rs57243979	0.86[EUR][1000 genomes]
rs62139477	0.87[EUR][1000 genomes]
rs6544350	0.86[ASN][1000 genomes]
rs6710038	0.86[ASN][1000 genomes]
rs6713004	0.84[ASN][1000 genomes]
rs6721900	0.87[EUR][1000 genomes]
rs6755751	0.81[EUR][1000 genomes]
rs67918843	0.84[ASN][1000 genomes]
rs68168524	0.84[ASN][1000 genomes]
rs74177099	0.84[ASN][1000 genomes]
rs7557413	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7563807	0.83[EUR][1000 genomes]
rs7589309	0.81[ASN][1000 genomes]
rs767636	0.84[ASN][1000 genomes]
rs888021	0.88[EUR][1000 genomes]
rs9309057	0.83[ASN][1000 genomes]
rs9808252	0.87[ASN][1000 genomes]
rs983123	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv873918	chr2:40805427-40890416	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv528865	chr2:40805427-41218810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv470454	chr2:40815238-40896385	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv456429	chr2:40823026-40896385	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581507	chr2:40823026-40896385	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv581508	chr2:40833142-40890416	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv873920	chr2:40833142-40890416	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv873923	chr2:40835285-40890416	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	nsv873924	chr2:40835285-40926138	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv873925	chr2:40835285-40966719	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	nsv873926	chr2:40835285-40986860	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv873927	chr2:40835285-41034225	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv470455	chr2:40835285-41059164	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv873928	chr2:40835285-41075134	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv873929	chr2:40835285-41180690	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv581513	chr2:40843613-40896385	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
20	nsv873931	chr2:40869165-40966719	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40878000-40878600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:40878200-40878600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:40878200-40878600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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