Variant report

Variant	rs12305240
Chromosome Location	chr12:119435992-119435993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10775012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10849622	0.85[CHB][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs10851063	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064650	0.96[EUR][1000 genomes]
rs11064652	0.85[CHB][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs11064660	1.00[YRI][hapmap]
rs11069219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11609314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11609417	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11612123	0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs11612183	0.85[CHB][hapmap];0.96[EUR][1000 genomes]
rs11612863	0.85[CHB][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs11613424	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11614635	0.96[EUR][1000 genomes]
rs11615880	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12228320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228589	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305005	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561855	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35126317	0.83[EUR][1000 genomes]
rs4766925	0.85[CHB][hapmap];0.88[TSI][hapmap]
rs4767769	0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs4767772	0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs4767773	0.85[CHB][hapmap];1.00[TSI][hapmap]
rs4767774	0.87[EUR][1000 genomes]
rs57961828	0.87[EUR][1000 genomes]
rs59060630	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7302173	1.00[YRI][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv438238	chr12:119435753-119441212	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119427800-119440800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119428000-119443000	Weak transcription	Fetal Brain Male	brain
3	chr12:119433000-119436200	Weak transcription	Fetal Brain Female	brain
4	chr12:119434200-119437600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:119435000-119437000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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