Variant report

Variant	rs2015389
Chromosome Location	chr12:47787926-47787927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10785677	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10785684	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs10881116	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs11183931	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12581930	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2097726	0.86[ASN][1000 genomes]
rs2188943	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs6582709	0.86[ASN][1000 genomes]
rs6582710	0.86[ASN][1000 genomes]
rs7312534	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs9634311	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs982648	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47778000-47790600	Weak transcription	Right Atrium	heart
2	chr12:47783800-47788200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:47784000-47791200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:47784200-47789400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr12:47784400-47789400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr12:47784600-47788400	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:47784600-47791800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:47784800-47788000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:47785400-47791000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:47785800-47788400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:47785800-47789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:47785800-47790400	Weak transcription	Hela-S3	cervix
13	chr12:47786000-47788400	Enhancers	Colon Smooth Muscle	Colon
14	chr12:47786000-47789400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:47786000-47789600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:47786000-47790200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:47786200-47790400	Weak transcription	Spleen	Spleen
18	chr12:47786600-47788000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:47786600-47788200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:47786600-47788200	Enhancers	NH-A	brain
21	chr12:47786600-47788400	Enhancers	Brain Germinal Matrix	brain
22	chr12:47786600-47788400	Enhancers	Osteobl	bone
23	chr12:47786600-47788600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:47786800-47788000	Enhancers	Fetal Brain Female	brain
25	chr12:47786800-47788200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:47786800-47788200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:47786800-47788200	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:47786800-47788200	Enhancers	HSMM	muscle
29	chr12:47786800-47788800	Enhancers	Fetal Brain Male	brain
30	chr12:47787200-47788400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:47787400-47788000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr12:47787400-47788000	Enhancers	HUVEC	blood vessel
33	chr12:47787400-47788000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:47787400-47788200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:47787400-47788200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:47787400-47788200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:47787400-47788200	Enhancers	HMEC	breast
38	chr12:47787400-47789000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:47787400-47790200	Weak transcription	NHDF-Ad	bronchial
40	chr12:47787400-47790800	Weak transcription	Liver	Liver
41	chr12:47787600-47789000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:47787600-47789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:47787600-47789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:47787600-47790400	Weak transcription	Primary T cells from cord blood	blood
45	chr12:47787600-47790600	Weak transcription	Adipose Nuclei	Adipose
46	chr12:47787600-47790800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:47787600-47791000	Enhancers	A549	lung
48	chr12:47787800-47788000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:47787800-47788200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:47787800-47788400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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