Variant report

Variant	rs12611917
Chromosome Location	chr2:56129171-56129172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3791663	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3791664	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791666	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7577612	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56116400-56144400	Weak transcription	Lung	lung
2	chr2:56116600-56131000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:56119600-56136400	Genic enhancers	HUVEC	blood vessel
4	chr2:56122600-56135000	Weak transcription	Aorta	Aorta
5	chr2:56126400-56130000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:56126800-56129400	Enhancers	NHLF	lung
7	chr2:56126800-56130200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:56127400-56129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:56127400-56129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:56127800-56129200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:56128000-56129200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:56128000-56129200	Enhancers	Hela-S3	cervix
13	chr2:56128000-56129400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:56128000-56130200	Enhancers	NHEK	skin
15	chr2:56128200-56129200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:56128200-56129200	Enhancers	HMEC	breast
17	chr2:56128200-56129200	Genic enhancers	HSMM	muscle
18	chr2:56128200-56129400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:56128200-56129400	Enhancers	K562	blood
20	chr2:56128400-56129200	Flanking Active TSS	A549	lung
21	chr2:56128400-56130600	Genic enhancers	Osteobl	bone
22	chr2:56128600-56129200	Enhancers	Ovary	ovary
23	chr2:56128600-56129400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:56128600-56129400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:56128600-56130800	Enhancers	Fetal Kidney	kidney
26	chr2:56128800-56129200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:56128800-56129200	Enhancers	Placenta	Placenta
28	chr2:56128800-56129200	Enhancers	Pancreas	Pancrea
29	chr2:56128800-56129400	Weak transcription	Fetal Intestine Large	intestine
30	chr2:56128800-56129600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:56128800-56130000	Enhancers	Stomach Mucosa	stomach
32	chr2:56129000-56129200	Enhancers	Brain Anterior Caudate	brain
33	chr2:56129000-56129400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:56129000-56130200	Enhancers	NH-A	brain
35	chr2:56129000-56131000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:56129000-56144200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:56129000-56144400	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links