Variant report

Variant	rs59746341
Chromosome Location	chr12:11970288-11970289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11968088..11970752-chr12:11973780..11976134,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11054440	1.00[AMR][1000 genomes]
rs11832161	1.00[AMR][1000 genomes]
rs12302332	1.00[AMR][1000 genomes]
rs12310301	1.00[AMR][1000 genomes]
rs12318734	1.00[AMR][1000 genomes]
rs12319475	1.00[AMR][1000 genomes]
rs13377739	1.00[AMR][1000 genomes]
rs16907150	1.00[AMR][1000 genomes]
rs72550772	1.00[AMR][1000 genomes]
rs7308701	1.00[AMR][1000 genomes]
rs73286656	1.00[AMR][1000 genomes]
rs9971847	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	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
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11966000-11974800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:11966200-11971800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:11966200-11974800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11966400-11972000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:11966400-11974600	Weak transcription	Small Intestine	intestine
6	chr12:11966400-11974800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:11966400-11975000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:11966400-11983000	Weak transcription	Colonic Mucosa	Colon
9	chr12:11966600-11970400	Enhancers	Colon Smooth Muscle	Colon
10	chr12:11966600-11972200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:11966600-11978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:11966800-11970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:11966800-11974800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:11966800-11974800	Weak transcription	Liver	Liver
15	chr12:11966800-11974800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:11966800-11975200	Weak transcription	Brain Germinal Matrix	brain
17	chr12:11967000-11971800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:11967000-11974800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:11967200-11970600	Weak transcription	HepG2	liver
20	chr12:11967200-11972600	Weak transcription	Primary B cells from cord blood	blood
21	chr12:11967200-11975000	Weak transcription	Fetal Kidney	kidney
22	chr12:11967200-11982800	Weak transcription	Stomach Mucosa	stomach
23	chr12:11967400-11984000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:11967600-11970600	Weak transcription	Fetal Intestine Large	intestine
25	chr12:11967600-11971800	Weak transcription	Fetal Stomach	stomach
26	chr12:11967600-11974600	Weak transcription	Primary T cells from cord blood	blood
27	chr12:11967600-11975200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:11967800-11970600	Strong transcription	Fetal Intestine Small	intestine
29	chr12:11967800-11971600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:11967800-11974600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:11967800-11974800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:11967800-11974800	Weak transcription	A549	lung
33	chr12:11967800-11980200	Weak transcription	Aorta	Aorta
34	chr12:11968000-11970800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:11968000-11971600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:11968000-11971800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:11968000-11971800	Weak transcription	Thymus	Thymus
38	chr12:11968000-11972200	Genic enhancers	Fetal Thymus	thymus
39	chr12:11968000-11973000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:11968000-11974800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:11968000-11974800	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:11968000-11974800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:11968000-11974800	Weak transcription	HSMM	muscle
44	chr12:11968000-11974800	Weak transcription	HSMMtube	muscle
45	chr12:11968000-11974800	Weak transcription	HUVEC	blood vessel
46	chr12:11968000-11975000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:11968000-11975000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:11968000-11975000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:11968000-11975000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:11968000-11975000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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