Variant report

Variant	rs12622938
Chromosome Location	chr2:190523163-190523164
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190522887..190525568-chr2:190562266..190564639,2	MCF-7	breast:
2	chr2:190515275..190516787-chr2:190520787..190523527,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1233264	0.85[EUR][1000 genomes]
rs16831841	1.00[EUR][1000 genomes]
rs16831880	0.94[EUR][1000 genomes]
rs16831887	0.88[EUR][1000 genomes]
rs16831909	0.94[EUR][1000 genomes]
rs16831964	0.85[EUR][1000 genomes]
rs16832035	0.85[EUR][1000 genomes]
rs17199060	0.85[EUR][1000 genomes]
rs34250747	0.94[EUR][1000 genomes]
rs3791769	0.85[EUR][1000 genomes]
rs3791772	0.85[EUR][1000 genomes]
rs4666785	0.85[EUR][1000 genomes]
rs4667307	0.82[EUR][1000 genomes]
rs5742959	0.85[EUR][1000 genomes]
rs5742960	0.85[EUR][1000 genomes]
rs5743002	0.85[EUR][1000 genomes]
rs5743006	0.85[EUR][1000 genomes]
rs5743010	0.85[EUR][1000 genomes]
rs5743022	0.85[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190514800-190525600	Weak transcription	NHLF	lung
2	chr2:190520000-190525600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:190520200-190526200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:190521800-190526000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:190522200-190523200	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:190522200-190523400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr2:190522200-190523600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:190522200-190523600	Enhancers	Thymus	Thymus
9	chr2:190522200-190523800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:190522200-190524000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:190522200-190524000	Enhancers	Osteobl	bone
12	chr2:190522400-190523200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:190522400-190523400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:190522400-190523400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:190522400-190523400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:190522400-190523400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr2:190522400-190523400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr2:190522400-190523400	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:190522400-190523400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:190522400-190523600	Enhancers	Fetal Lung	lung
21	chr2:190522400-190523600	Flanking Active TSS	Dnd41	blood
22	chr2:190522400-190523800	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:190522400-190523800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:190522400-190524000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr2:190522400-190524200	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:190522400-190524200	Enhancers	Fetal Thymus	thymus
27	chr2:190522600-190523200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:190522600-190523200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr2:190522600-190523200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr2:190522600-190523200	Enhancers	Fetal Heart	heart
31	chr2:190522600-190523400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:190522600-190523400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr2:190522600-190523400	Enhancers	NH-A	brain
34	chr2:190522600-190524000	Enhancers	Stomach Mucosa	stomach
35	chr2:190522600-190524200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr2:190522600-190524200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:190522600-190524400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:190522800-190523200	Enhancers	Primary B cells from cord blood	blood
39	chr2:190522800-190524200	Enhancers	Placenta	Placenta
40	chr2:190522800-190525400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:190522800-190526200	Weak transcription	Right Atrium	heart
42	chr2:190523000-190523400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr2:190523000-190523600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:190523000-190524000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr2:190523000-190524200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:190523000-190524400	Enhancers	Primary T cells from cord blood	blood
47	chr2:190523000-190524600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:190523000-190525600	Weak transcription	NHDF-Ad	bronchial

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