Variant report

Variant	rs12477696
Chromosome Location	chr2:183072429-183072430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10180233	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10181526	0.89[EUR][1000 genomes]
rs10184548	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193166	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206325	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10930992	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674335	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11886669	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11886671	0.98[ASN][1000 genomes]
rs11893572	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11895090	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196058	0.87[EUR][1000 genomes]
rs1196059	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196062	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196065	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196066	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196067	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196072	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1196074	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1210652	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12467526	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12477627	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612546	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693299	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12693300	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016087	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344772	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1432522	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1432534	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1594618	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1864855	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1897472	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1946602	0.87[EUR][1000 genomes]
rs1991765	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2368254	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2368256	0.89[EUR][1000 genomes]
rs2368279	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769788	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769791	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769801	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666578	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666579	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666820	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433959	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433960	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6706326	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714282	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717783	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6728985	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758334	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7597711	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875477	chr2:182938377-183086478	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1807941	chr2:183068844-183091601	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	esv1814932	chr2:183068844-183091601	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183048400-183073000	Weak transcription	Fetal Stomach	stomach
2	chr2:183061000-183085000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:183065800-183087600	Weak transcription	Aorta	Aorta
4	chr2:183065800-183087600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:183066200-183074800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:183067000-183084000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:183071600-183073200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:183071600-183086800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:183072000-183072800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:183072000-183072800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:183072400-183072800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:183072400-183072800	Flanking Active TSS	GM12878-XiMat	blood

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