Variant report

Variant	rs1283812
Chromosome Location	chr12:21982281-21982282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11046200	0.81[ASN][1000 genomes]
rs1283809	0.88[AMR][1000 genomes]
rs1283810	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1283811	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1873638	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2161062	0.88[AMR][1000 genomes]
rs56178300	0.88[AMR][1000 genomes]
rs829074	0.87[AMR][1000 genomes];0.93[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	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
2	chr12:21973800-21994800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:21976200-21984400	Weak transcription	Fetal Kidney	kidney
5	chr12:21978800-21982600	Enhancers	Adipose Nuclei	Adipose
6	chr12:21979600-21983200	Enhancers	Fetal Stomach	stomach
7	chr12:21979800-21982600	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:21980600-22002800	Weak transcription	Fetal Heart	heart
9	chr12:21981600-21982400	Enhancers	Ovary	ovary
10	chr12:21981600-21984400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:21981600-21984400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:21981800-21983800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:21981800-21991000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:21982000-21984200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:21982000-21984200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:21982000-21984200	Weak transcription	NHLF	lung
17	chr12:21982000-21984400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:21982000-21984400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:21982000-21984400	Weak transcription	Osteobl	bone
20	chr12:21982000-21989200	Weak transcription	Left Ventricle	heart
21	chr12:21982000-21989400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:21982200-21983600	Weak transcription	Liver	Liver
23	chr12:21982200-21984200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:21982200-21984200	Weak transcription	Fetal Lung	lung
25	chr12:21982200-21984400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:21982200-21984400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:21982200-21984400	Weak transcription	Aorta	Aorta
28	chr12:21982200-21984400	Weak transcription	NHDF-Ad	bronchial
29	chr12:21982200-21984600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links