Variant report

Variant	rs3890734
Chromosome Location	chr12:48289355-48289356
allele	A/G
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	chr12:48282907..48285803-chr12:48287425..48289642,3	K562	blood:
3	chr12:48276825..48278640-chr12:48287655..48289892,3	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11168292	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168293	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs3890733	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760658	0.92[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59128934	1.00[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	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	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
6	chr12:48283400-48289600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:48283400-48289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:48283400-48293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:48283600-48290000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:48283600-48290400	Weak transcription	Fetal Intestine Large	intestine
11	chr12:48284000-48289600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
13	chr12:48285200-48290000	Strong transcription	Fetal Intestine Small	intestine
14	chr12:48285400-48289600	Weak transcription	Placenta	Placenta
15	chr12:48286000-48292800	Weak transcription	Small Intestine	intestine
16	chr12:48286800-48290200	Weak transcription	Pancreas	Pancrea
17	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
18	chr12:48287000-48292000	Genic enhancers	HMEC	breast
19	chr12:48287000-48293200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:48287200-48290200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:48287200-48290200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:48287400-48290400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:48287600-48289600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:48287600-48289800	Weak transcription	Lung	lung
25	chr12:48287600-48291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:48287600-48291600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:48287800-48290600	Weak transcription	NHLF	lung
28	chr12:48287800-48291200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:48287800-48291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:48287800-48292000	Enhancers	Colonic Mucosa	Colon
31	chr12:48287800-48292000	Genic enhancers	NHEK	skin
32	chr12:48287800-48293400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:48287800-48294200	Weak transcription	NHDF-Ad	bronchial
34	chr12:48288000-48290200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:48288000-48290200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr12:48288200-48289400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:48288200-48290000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:48288200-48290400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:48288400-48289600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:48288400-48289600	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:48288400-48289800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:48288400-48290000	Weak transcription	Primary B cells from cord blood	blood
43	chr12:48288400-48290200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:48288400-48290400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:48288400-48290600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:48288400-48290600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:48288400-48291600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:48288400-48292000	Weak transcription	Osteobl	bone
49	chr12:48288400-48293000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:48288400-48293400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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