Variant report

Variant	rs73275248
Chromosome Location	chr12:11958300-11958301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11898044..11900698-chr12:11957221..11959288,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16907514	1.00[AMR][1000 genomes]
rs55977745	1.00[AMR][1000 genomes]
rs56140733	1.00[AMR][1000 genomes]
rs57312986	1.00[AMR][1000 genomes]
rs57699137	1.00[AMR][1000 genomes]
rs57833941	1.00[AMR][1000 genomes]
rs57891658	1.00[AMR][1000 genomes]
rs58153236	0.83[AFR][1000 genomes]
rs58453187	1.00[AMR][1000 genomes]
rs58842201	1.00[AMR][1000 genomes]
rs59632980	1.00[AMR][1000 genomes]
rs59843195	1.00[AMR][1000 genomes]
rs73290521	1.00[AMR][1000 genomes]
rs73290524	1.00[AMR][1000 genomes]
rs73290599	1.00[AMR][1000 genomes]
rs74060863	1.00[AMR][1000 genomes]
rs74060864	1.00[AMR][1000 genomes]
rs74060865	1.00[AMR][1000 genomes]
rs74060867	1.00[AMR][1000 genomes]
rs74060875	1.00[AMR][1000 genomes]
rs74060876	1.00[AMR][1000 genomes]
rs74060879	1.00[AMR][1000 genomes]
rs74060881	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11941600-11963200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:11946400-11960200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:11947400-11964200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:11949000-11958400	Weak transcription	Fetal Intestine Large	intestine
5	chr12:11949200-11964000	Weak transcription	Fetal Kidney	kidney
6	chr12:11949200-11964200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:11949400-11959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:11950200-11963200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:11950600-11963400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:11950800-11963800	Weak transcription	Fetal Stomach	stomach
11	chr12:11950800-11964000	Weak transcription	Brain Anterior Caudate	brain
12	chr12:11950800-11964400	Weak transcription	Colonic Mucosa	Colon
13	chr12:11952200-11959600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:11952200-11960000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:11952200-11963600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:11952400-11963200	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:11952400-11963600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:11952400-11964000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:11952400-11964200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:11952400-11964200	Weak transcription	Gastric	stomach
21	chr12:11952400-11965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:11952400-11965400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:11952600-11958400	Weak transcription	Small Intestine	intestine
24	chr12:11952600-11958600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:11952600-11964600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:11952600-11964800	Weak transcription	NH-A	brain
27	chr12:11952600-11965000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:11952600-11965000	Weak transcription	Osteobl	bone
29	chr12:11952600-11965200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:11952800-11965200	Weak transcription	HSMM	muscle
31	chr12:11953600-11960200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:11954600-11959000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:11955000-11959200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:11955000-11960000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:11955000-11961600	Genic enhancers	Dnd41	blood
36	chr12:11955000-11964000	Weak transcription	Left Ventricle	heart
37	chr12:11955000-11964200	Weak transcription	Pancreas	Pancrea
38	chr12:11955000-11964200	Weak transcription	Right Atrium	heart
39	chr12:11955000-11965800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:11955200-11958400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:11955200-11959600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:11955200-11959600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:11955200-11960400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:11955200-11964600	Weak transcription	Fetal Intestine Small	intestine
45	chr12:11955200-11965200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:11955200-11965200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:11955200-11965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:11955200-11965400	Weak transcription	Aorta	Aorta
49	chr12:11955200-11965800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:11955400-11959200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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