Variant report

Variant	rs9634311
Chromosome Location	chr12:47787089-47787090
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	chr12:47613611..47616531-chr12:47785792..47787897,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10785677	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183931	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11183932	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2015389	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs982648	0.83[AMR][1000 genomes];0.84[EUR][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47778000-47790600	Weak transcription	Right Atrium	heart
2	chr12:47783200-47787400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:47783200-47787800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:47783800-47788200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:47784000-47791200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:47784200-47789400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr12:47784400-47787400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:47784400-47789400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:47784600-47787600	Enhancers	Primary T cells from cord blood	blood
10	chr12:47784600-47788400	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:47784600-47791800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:47784800-47788000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:47785400-47791000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:47785800-47787800	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:47785800-47788400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:47785800-47789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:47785800-47790400	Weak transcription	Hela-S3	cervix
18	chr12:47786000-47788400	Enhancers	Colon Smooth Muscle	Colon
19	chr12:47786000-47789400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:47786000-47789600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:47786000-47790200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:47786200-47790400	Weak transcription	Spleen	Spleen
23	chr12:47786400-47787600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:47786600-47787400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:47786600-47787400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:47786600-47787400	Enhancers	HSMMtube	muscle
27	chr12:47786600-47787400	Enhancers	K562	blood
28	chr12:47786600-47787400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:47786600-47787400	Enhancers	NHDF-Ad	bronchial
30	chr12:47786600-47787600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:47786600-47787600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:47786600-47787600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:47786600-47787600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:47786600-47787600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:47786600-47787600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:47786600-47787600	Flanking Active TSS	A549	lung
37	chr12:47786600-47787800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:47786600-47788000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr12:47786600-47788200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr12:47786600-47788200	Enhancers	NH-A	brain
41	chr12:47786600-47788400	Enhancers	Brain Germinal Matrix	brain
42	chr12:47786600-47788400	Enhancers	Osteobl	bone
43	chr12:47786600-47788600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:47786800-47787200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:47786800-47787200	Enhancers	Primary B cells from cord blood	blood
46	chr12:47786800-47787400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:47786800-47787400	Flanking Active TSS	HUVEC	blood vessel
48	chr12:47786800-47787400	Flanking Active TSS	NHEK	skin
49	chr12:47786800-47787600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:47786800-47787600	Enhancers	Adipose Nuclei	Adipose

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