Variant report

Variant	rs7963993
Chromosome Location	chr12:42022787-42022788
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1020534	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431602	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431603	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10506205	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs10880113	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880114	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880115	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880119	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880120	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880125	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880127	0.81[EUR][1000 genomes]
rs11181079	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11181094	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11181095	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11181102	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11181121	0.81[ASN][1000 genomes]
rs11181124	0.81[ASN][1000 genomes]
rs12425224	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs157972	0.85[JPT][hapmap]
rs158190	0.86[JPT][hapmap]
rs285563	0.90[ASN][1000 genomes]
rs285564	0.90[ASN][1000 genomes]
rs285565	0.88[ASN][1000 genomes]
rs285566	0.90[ASN][1000 genomes]
rs285568	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs285569	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs286978	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs286979	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs286991	0.85[JPT][hapmap]
rs286997	1.00[ASN][1000 genomes]
rs287000	1.00[ASN][1000 genomes]
rs287013	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs287030	0.90[ASN][1000 genomes]
rs287042	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35306460	0.81[ASN][1000 genomes]
rs4514489	0.90[ASN][1000 genomes]
rs73284165	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7956041	0.82[EUR][1000 genomes]

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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899041	chr12:42005690-42072514	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42021000-42024200	Enhancers	Fetal Brain Male	brain
2	chr12:42022600-42024200	Enhancers	Fetal Brain Female	brain

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