Variant report

Variant	rs11574026
Chromosome Location	chr12:48288246-48288247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48284997..48287054-chr12:48287435..48289980,2	K562	blood:
2	chr12:48282132..48284740-chr12:48286708..48289007,3	K562	blood:
3	chr12:48286982..48288519-chr12:48291804..48294615,2	K562	blood:
4	chr12:48282907..48285803-chr12:48287425..48289642,3	K562	blood:
5	chr12:48276825..48278640-chr12:48287655..48289892,3	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]
rs10128967	1.00[CHB][hapmap]
rs10875718	1.00[CHB][hapmap]
rs10875719	1.00[CHB][hapmap]
rs12297820	1.00[CHB][hapmap]
rs12301562	1.00[CHB][hapmap]
rs17882106	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7136534	0.82[ASW][hapmap]
rs7959510	1.00[CHB][hapmap]

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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48277200-48289600	Weak transcription	Esophagus	oesophagus
3	chr12:48277200-48290600	Weak transcription	Gastric	stomach
4	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
6	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
7	chr12:48283200-48288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:48283400-48289600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:48283400-48289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:48283400-48293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:48283600-48290000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:48283600-48290400	Weak transcription	Fetal Intestine Large	intestine
13	chr12:48284000-48289600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
15	chr12:48285200-48290000	Strong transcription	Fetal Intestine Small	intestine
16	chr12:48285400-48289600	Weak transcription	Placenta	Placenta
17	chr12:48286000-48288400	Genic enhancers	Osteobl	bone
18	chr12:48286000-48292800	Weak transcription	Small Intestine	intestine
19	chr12:48286600-48288400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:48286600-48288400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:48286600-48288400	Enhancers	HSMM	muscle
22	chr12:48286800-48290200	Weak transcription	Pancreas	Pancrea
23	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
24	chr12:48287000-48288800	Enhancers	HSMMtube	muscle
25	chr12:48287000-48292000	Genic enhancers	HMEC	breast
26	chr12:48287000-48293200	Weak transcription	Primary T cells from cord blood	blood
27	chr12:48287200-48290200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:48287200-48290200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:48287400-48288400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:48287400-48288400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:48287400-48288400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:48287400-48288400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:48287400-48288600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:48287400-48288600	Enhancers	Spleen	Spleen
35	chr12:48287400-48289000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr12:48287400-48290400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:48287600-48288400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:48287600-48288400	Enhancers	Primary B cells from cord blood	blood
39	chr12:48287600-48288400	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:48287600-48288400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:48287600-48288600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:48287600-48289600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:48287600-48289800	Weak transcription	Lung	lung
44	chr12:48287600-48291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:48287600-48291600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:48287800-48288400	Enhancers	Fetal Thymus	thymus
47	chr12:48287800-48290600	Weak transcription	NHLF	lung
48	chr12:48287800-48291200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:48287800-48291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:48287800-48292000	Enhancers	Colonic Mucosa	Colon

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