Variant report

Variant	rs12066330
Chromosome Location	chr1:9757994-9757995
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11811820	1.00[EUR][1000 genomes]
rs1220403	1.00[EUR][1000 genomes]
rs55913306	1.00[EUR][1000 genomes]
rs57585081	1.00[EUR][1000 genomes]
rs60678622	1.00[EUR][1000 genomes]
rs6679984	1.00[EUR][1000 genomes]
rs6701659	1.00[EUR][1000 genomes]
rs7354926	1.00[EUR][1000 genomes]
rs74051531	1.00[EUR][1000 genomes]
rs74051533	1.00[EUR][1000 genomes]
rs74051540	1.00[EUR][1000 genomes]
rs74051544	1.00[EUR][1000 genomes]
rs946273	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3424708	chr1:9748735-9771466	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9750400-9770400	Weak transcription	Brain Substantia Nigra	brain
2	chr1:9750600-9775800	Weak transcription	Pancreas	Pancrea
3	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
4	chr1:9750800-9760200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:9750800-9760600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:9750800-9770000	Weak transcription	Adipose Nuclei	Adipose
7	chr1:9750800-9770000	Weak transcription	Aorta	Aorta
8	chr1:9750800-9771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:9750800-9775400	Weak transcription	Gastric	stomach
10	chr1:9751000-9764000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:9751000-9770200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:9751000-9770400	Weak transcription	Fetal Brain Female	brain
13	chr1:9751000-9775600	Weak transcription	Esophagus	oesophagus
14	chr1:9751000-9777600	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:9751000-9779800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:9751400-9760200	Weak transcription	Thymus	Thymus
17	chr1:9751400-9763400	Weak transcription	Brain Germinal Matrix	brain
18	chr1:9751600-9759000	Weak transcription	HMEC	breast
19	chr1:9751600-9759600	Weak transcription	HepG2	liver
20	chr1:9751800-9759000	Weak transcription	NHEK	skin
21	chr1:9751800-9760000	Weak transcription	HSMMtube	muscle
22	chr1:9751800-9761200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:9752000-9759200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:9752000-9760200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:9752000-9760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:9752000-9774000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:9752200-9760200	Weak transcription	NHDF-Ad	bronchial
28	chr1:9752400-9758600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:9752400-9759200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:9752400-9759800	Weak transcription	Fetal Intestine Small	intestine
31	chr1:9752400-9760200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:9752400-9760200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:9752400-9760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:9752400-9761800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:9752400-9776000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:9754200-9760600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:9754200-9760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:9754400-9759000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:9754400-9759200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:9754400-9759200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:9754400-9760400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:9754400-9760400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:9754400-9760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:9754600-9759200	Weak transcription	Lung	lung
45	chr1:9754800-9758600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:9754800-9759000	Weak transcription	Spleen	Spleen
47	chr1:9754800-9759200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:9754800-9771200	Weak transcription	Ovary	ovary
49	chr1:9755000-9758000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:9755000-9758000	Weak transcription	Dnd41	blood

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