Variant report

Variant	rs957839
Chromosome Location	chr2:77300573-77300574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10174161	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10181919	1.00[CHB][hapmap]
rs10198799	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs11126580	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126582	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11126583	0.86[EUR][1000 genomes]
rs11126586	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11126588	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11126589	0.95[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11889639	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11903423	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12614582	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13412552	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13421983	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422002	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431979	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1374395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1921733	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2860082	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2860940	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2860941	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28739330	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34356658	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4455181	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55855347	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56050325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56120121	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56125553	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56242614	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56356710	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56357290	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59731212	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6547121	0.86[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs6721925	0.82[EUR][1000 genomes]
rs6725731	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6730095	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6746253	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6750737	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs6750865	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs715280	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570003	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs7583894	0.95[CEU][hapmap];0.90[CHB][hapmap]
rs7586053	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7586062	0.84[ASN][1000 genomes]
rs7586460	0.82[EUR][1000 genomes]
rs7599837	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv997284	chr2:77233426-77303198	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1014895	chr2:77263452-77414507	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874331	chr2:77264354-77305123	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
5	nsv458285	chr2:77276201-77345491	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
6	nsv582252	chr2:77276201-77345491	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
7	nsv874332	chr2:77288585-77387208	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
8	nsv523873	chr2:77297536-77301139	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
9	nsv526121	chr2:77297536-77305123	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77300000-77311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77300400-77301800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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