Variant report

Variant	rs12692444
Chromosome Location	chr2:11796361-11796362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10174803	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10210590	0.89[EUR][1000 genomes]
rs10210917	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12612207	0.96[CEU][hapmap];0.81[CHB][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4233897	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs4358094	0.96[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4578832	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4669763	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4669767	0.96[CEU][hapmap];0.81[CHB][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4669769	0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs6737137	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575374	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11780600-11807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11783600-11800000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:11783800-11797400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:11784400-11796800	Weak transcription	Ovary	ovary
5	chr2:11792200-11800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:11792600-11797400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:11793400-11798200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:11793800-11797800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:11795400-11796800	Enhancers	Hela-S3	cervix
10	chr2:11795600-11796800	Bivalent Enhancer	HepG2	liver
11	chr2:11795800-11796800	Weak transcription	Gastric	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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