Variant report

Variant	rs11182381
Chromosome Location	chr12:44408165-44408166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11182302	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182309	0.81[ASN][1000 genomes]
rs11182344	1.00[CHD][hapmap]
rs11182360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182362	1.00[ASN][1000 genomes]
rs11182365	1.00[ASN][1000 genomes]
rs11182369	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182379	1.00[ASN][1000 genomes]
rs11182383	1.00[ASN][1000 genomes]
rs11182384	1.00[CHB][hapmap]
rs11182385	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11182386	1.00[ASN][1000 genomes]
rs11182387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182388	1.00[ASN][1000 genomes]
rs11182390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182394	1.00[ASN][1000 genomes]
rs11182396	1.00[CHB][hapmap]
rs11182399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182403	1.00[ASN][1000 genomes]
rs11182405	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11182406	1.00[ASN][1000 genomes]
rs11182409	1.00[ASN][1000 genomes]
rs11182413	1.00[JPT][hapmap]
rs12099769	1.00[CHB][hapmap]
rs12228693	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12231403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12231978	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1565620	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1976211	1.00[CHB][hapmap]
rs3858723	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3929354	1.00[CHB][hapmap]
rs56040109	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56189744	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58729113	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59110659	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582494	1.00[JPT][hapmap]
rs6582495	1.00[CHB][hapmap]
rs73087638	1.00[EUR][1000 genomes]
rs73087652	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087657	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087667	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087672	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087678	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087690	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087697	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087699	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73089709	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089717	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089719	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089736	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089738	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089749	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089758	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091731	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs73091734	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs74084623	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74087905	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087909	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7959226	1.00[CHB][hapmap]
rs7980005	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs8181703	1.00[ASN][1000 genomes]
rs842207	1.00[JPT][hapmap]
rs9919742	1.00[CHB][hapmap];1.00[CHD][hapmap]

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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44402800-44414600	Weak transcription	HSMMtube	muscle
4	chr12:44403600-44415600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44403800-44409400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:44404000-44422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44404200-44414600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:44404200-44422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:44404400-44416400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:44406800-44409800	Weak transcription	Fetal Brain Female	brain
11	chr12:44407200-44413000	Weak transcription	Pancreas	Pancrea

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