Variant report

Variant	rs61933009
Chromosome Location	chr12:44363456-44363457
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:30)

rs_ID	r²[population]
rs1531402	0.82[EUR][1000 genomes]
rs55821943	0.88[EUR][1000 genomes]
rs55913788	0.82[EUR][1000 genomes]
rs55914098	0.88[EUR][1000 genomes]
rs55987826	0.88[EUR][1000 genomes]
rs55995646	0.84[EUR][1000 genomes]
rs56024677	0.88[EUR][1000 genomes]
rs56066688	0.80[EUR][1000 genomes]
rs56134007	0.86[EUR][1000 genomes]
rs56168228	0.86[EUR][1000 genomes]
rs56312131	0.88[EUR][1000 genomes]
rs57066844	0.86[EUR][1000 genomes]
rs57331385	0.86[EUR][1000 genomes]
rs58531015	0.88[EUR][1000 genomes]
rs58824683	0.88[EUR][1000 genomes]
rs58938395	0.86[EUR][1000 genomes]
rs60120002	0.86[EUR][1000 genomes]
rs60221557	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60306990	0.88[EUR][1000 genomes]
rs60467323	0.88[EUR][1000 genomes]
rs60715781	0.82[EUR][1000 genomes]
rs61930691	0.82[EUR][1000 genomes]
rs61930693	0.82[EUR][1000 genomes]
rs61930709	0.88[EUR][1000 genomes]
rs61930716	0.88[EUR][1000 genomes]
rs61930718	0.88[EUR][1000 genomes]
rs61932974	0.95[EUR][1000 genomes]
rs73085709	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085734	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7971036	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
3	chr12:44346200-44363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44354400-44367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:44356200-44368000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:44358800-44367800	Weak transcription	Esophagus	oesophagus
7	chr12:44360000-44366200	Weak transcription	Fetal Intestine Small	intestine
8	chr12:44361000-44363800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
10	chr12:44363400-44363800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:44363400-44363800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:44363400-44363800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:44363400-44363800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:44363400-44363800	Enhancers	HSMM	muscle
15	chr12:44363400-44363800	Enhancers	NHLF	lung
16	chr12:44363400-44364000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:44363400-44364000	Enhancers	Hela-S3	cervix
18	chr12:44363400-44364000	Enhancers	HSMMtube	muscle
19	chr12:44363400-44364000	Enhancers	HUVEC	blood vessel
20	chr12:44363400-44364000	Enhancers	NHDF-Ad	bronchial
21	chr12:44363400-44364000	Enhancers	NHEK	skin
22	chr12:44363400-44364000	Enhancers	Osteobl	bone
23	chr12:44363400-44364600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:44363400-44364600	Enhancers	HMEC	breast
25	chr12:44363400-44365800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links