Variant report

Variant	rs11574030
Chromosome Location	chr12:48286633-48286634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48276795..48279456-chr12:48285534..48287746,2	MCF-7	breast:
2	chr12:48280571..48282115-chr12:48285370..48287447,2	K562	blood:
3	chr12:48286253..48286993-chr13:111096495..111097274,2	MCF-7	breast:
4	chr12:48284997..48287054-chr12:48287435..48289980,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11168384	1.00[AMR][1000 genomes]
rs11168385	1.00[AMR][1000 genomes]
rs12303042	1.00[AMR][1000 genomes]
rs12303151	1.00[AMR][1000 genomes]
rs12303317	1.00[AMR][1000 genomes]
rs12303908	1.00[AMR][1000 genomes]
rs12306869	1.00[AMR][1000 genomes]
rs12310743	1.00[AMR][1000 genomes]
rs12321931	1.00[AMR][1000 genomes]
rs73301128	1.00[AMR][1000 genomes]
rs73301161	1.00[AMR][1000 genomes]
rs73301164	1.00[AMR][1000 genomes]
rs7358642	1.00[AMR][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	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	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:63 , 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	chr12:48277600-48287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
7	chr12:48278400-48287400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
9	chr12:48278600-48287800	Strong transcription	NHEK	skin
10	chr12:48279200-48287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:48283000-48287800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:48283200-48288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:48283400-48287600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:48283400-48287600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:48283400-48287600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:48283400-48289600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:48283400-48289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:48283400-48293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:48283600-48290000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:48283600-48290400	Weak transcription	Fetal Intestine Large	intestine
23	chr12:48284000-48289600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:48284600-48287400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:48284800-48287000	Strong transcription	HMEC	breast
26	chr12:48284800-48287600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:48284800-48288200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
29	chr12:48285200-48290000	Strong transcription	Fetal Intestine Small	intestine
30	chr12:48285400-48287400	Weak transcription	GM12878-XiMat	blood
31	chr12:48285400-48289600	Weak transcription	Placenta	Placenta
32	chr12:48285600-48287200	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:48285800-48287000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:48285800-48287400	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr12:48285800-48287600	Genic enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:48286000-48287600	Enhancers	Lung	lung
37	chr12:48286000-48288200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:48286000-48288400	Genic enhancers	Osteobl	bone
39	chr12:48286000-48292800	Weak transcription	Small Intestine	intestine
40	chr12:48286200-48286800	Enhancers	Right Atrium	heart
41	chr12:48286200-48287200	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:48286200-48287600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:48286400-48286800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:48286400-48287200	Enhancers	Fetal Thymus	thymus
45	chr12:48286400-48287400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:48286400-48287400	Weak transcription	Spleen	Spleen
47	chr12:48286400-48287800	Weak transcription	Colonic Mucosa	Colon
48	chr12:48286400-48287800	Enhancers	NHDF-Ad	bronchial
49	chr12:48286600-48286800	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr12:48286600-48286800	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links