Variant report

Variant	rs5022566
Chromosome Location	chr12:11809612-11809613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11808714..11811317-chr12:11811716..11813257,2	K562	blood:
2	chr12:11808642..11810219-chr12:11833540..11835444,2	K562	blood:
3	chr12:11790830..11792844-chr12:11808167..11810511,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10491985	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12578238	1.00[AMR][1000 genomes]
rs2416881	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2724608	1.00[AMR][1000 genomes]
rs4503633	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74062381	1.00[AMR][1000 genomes]
rs956753	1.00[EUR][1000 genomes]
rs9971751	0.87[EUR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11803600-11809800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr12:11804200-11814000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:11804600-11810600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:11804800-11809800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:11806000-11810200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:11806000-11812800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:11806000-11813000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:11806000-11813600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:11806000-11814200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:11806200-11815800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:11806200-11816600	Weak transcription	Hela-S3	cervix
12	chr12:11806400-11810200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:11806400-11810600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:11806400-11810600	Weak transcription	Brain Germinal Matrix	brain
15	chr12:11806400-11811400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:11806400-11811400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:11806400-11811400	Weak transcription	NHDF-Ad	bronchial
18	chr12:11806400-11811600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:11806400-11811800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:11806400-11813200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:11806400-11814000	Weak transcription	Colonic Mucosa	Colon
22	chr12:11806400-11815800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:11806600-11810000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:11806600-11810000	Weak transcription	Osteobl	bone
25	chr12:11806600-11810200	Weak transcription	Primary T cells from cord blood	blood
26	chr12:11806600-11811400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:11806600-11811400	Weak transcription	HSMMtube	muscle
28	chr12:11806600-11811600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:11806600-11811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:11806600-11811800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:11806600-11812000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:11806600-11813000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:11806600-11813800	Weak transcription	Fetal Intestine Small	intestine
34	chr12:11806600-11814000	Weak transcription	Gastric	stomach
35	chr12:11806600-11814400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:11806600-11814400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:11806600-11814600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:11806600-11819200	Weak transcription	NHLF	lung
39	chr12:11806800-11810600	Weak transcription	Aorta	Aorta
40	chr12:11806800-11811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:11807000-11809800	Enhancers	Left Ventricle	heart
42	chr12:11807000-11811400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:11807000-11811800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:11807000-11814400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:11807200-11810800	Weak transcription	Brain Angular Gyrus	brain
46	chr12:11807400-11810800	Enhancers	Adipose Nuclei	Adipose
47	chr12:11807400-11811400	Weak transcription	HSMM	muscle
48	chr12:11807400-11813600	Weak transcription	Small Intestine	intestine
49	chr12:11807600-11810000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:11807600-11810600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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