Variant report

Variant	rs11182405
Chromosome Location	chr12:44447849-44447850
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44446827..44449468-chr12:44449634..44452541,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10736018	0.81[EUR][1000 genomes]
rs10785492	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs10880608	0.89[CEU][hapmap]
rs10880616	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10880617	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10880618	1.00[JPT][hapmap]
rs11182302	1.00[CHB][hapmap]
rs11182344	1.00[CHD][hapmap]
rs11182360	1.00[CHB][hapmap]
rs11182369	1.00[CHB][hapmap]
rs11182373	1.00[CHB][hapmap]
rs11182375	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182378	1.00[CHB][hapmap]
rs11182381	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11182384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182385	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];0.82[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182387	1.00[CHB][hapmap]
rs11182390	1.00[CHB][hapmap]
rs11182391	1.00[CHB][hapmap]
rs11182396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs11182399	1.00[CHB][hapmap]
rs11182402	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11182404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228693	1.00[CHB][hapmap]
rs12230287	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231403	1.00[CHB][hapmap]
rs12296857	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12301507	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs12313365	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1565620	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701083	1.00[JPT][hapmap]
rs17093973	0.83[TSI][hapmap]
rs17094007	0.82[MEX][hapmap];0.89[TSI][hapmap]
rs17094013	0.89[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1976211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407788	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs3929354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227915	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56337317	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6582494	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6582495	1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7136217	0.82[MEX][hapmap];0.83[TSI][hapmap]
rs7303909	0.82[MEX][hapmap];0.83[TSI][hapmap]
rs73087684	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087700	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089727	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73091745	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7312422	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7959226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980005	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs842194	1.00[JPT][hapmap]
rs9919676	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919742	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][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	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44438400-44449000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44439200-44464400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44445800-44448400	Enhancers	Hela-S3	cervix
4	chr12:44446400-44448000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:44446400-44448200	Enhancers	Adipose Nuclei	Adipose
6	chr12:44446800-44448000	Enhancers	HMEC	breast
7	chr12:44446800-44448200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:44446800-44448400	Enhancers	NHEK	skin
9	chr12:44447000-44448000	Enhancers	Aorta	Aorta
10	chr12:44447000-44448400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:44447000-44459800	Weak transcription	Gastric	stomach
12	chr12:44447200-44448400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:44447200-44448400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:44447400-44448000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:44447400-44448000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:44447400-44448200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:44447800-44448000	Enhancers	Osteobl	bone
18	chr12:44447800-44448400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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