Variant report

Variant	rs893782
Chromosome Location	chr2:190535538-190535539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190308372..190310331-chr2:190535454..190537876,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1020151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10209441	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931429	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11888722	1.00[AMR][1000 genomes]
rs1225086	1.00[AMR][1000 genomes]
rs1225103	1.00[AMR][1000 genomes]
rs12693550	1.00[AMR][1000 genomes]
rs1437880	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550242	1.00[AMR][1000 genomes]
rs2019099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2118454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254040	1.00[AMR][1000 genomes]
rs2263968	1.00[AMR][1000 genomes]
rs2352288	1.00[AMR][1000 genomes]
rs5742992	1.00[AMR][1000 genomes]
rs5742999	1.00[AMR][1000 genomes]
rs5743205	1.00[AMR][1000 genomes]
rs6723158	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs930426	1.00[AMR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190527400-190537400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:190527400-190538400	Weak transcription	Pancreas	Pancrea
3	chr2:190527400-190538400	Weak transcription	Right Ventricle	heart
4	chr2:190527400-190538600	Weak transcription	Esophagus	oesophagus
5	chr2:190527400-190538600	Weak transcription	Gastric	stomach
6	chr2:190527400-190539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:190527600-190538600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:190527600-190538600	Weak transcription	Spleen	Spleen
9	chr2:190527600-190539200	Weak transcription	Small Intestine	intestine
10	chr2:190527800-190538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:190527800-190538400	Weak transcription	Psoas Muscle	Psoas
12	chr2:190527800-190538600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:190528200-190537600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:190528200-190541600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:190528400-190536000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:190528400-190537400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:190528600-190538000	Weak transcription	Fetal Heart	heart
18	chr2:190528600-190539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:190528800-190537000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:190529000-190536000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:190529000-190537000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:190529000-190537200	Strong transcription	Placenta	Placenta
23	chr2:190529000-190537800	Strong transcription	HSMM	muscle
24	chr2:190529200-190537200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:190529400-190537200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:190529600-190537000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:190529600-190537200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:190529800-190537200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:190529800-190537200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:190529800-190537200	Strong transcription	Fetal Intestine Large	intestine
31	chr2:190529800-190537600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:190530000-190536000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:190530000-190537000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:190530000-190537600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:190530000-190542800	Strong transcription	Dnd41	blood
36	chr2:190530200-190537000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:190530400-190536200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:190530400-190536800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:190530400-190537200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:190530400-190537200	Strong transcription	NH-A	brain
41	chr2:190530400-190537800	Strong transcription	Fetal Thymus	thymus
42	chr2:190530400-190538200	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:190530600-190535800	Strong transcription	Fetal Lung	lung
44	chr2:190530600-190536800	Strong transcription	Osteobl	bone
45	chr2:190530600-190537200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:190530600-190537400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:190530600-190537400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:190530800-190536200	Strong transcription	HepG2	liver
49	chr2:190530800-190537000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:190530800-190537000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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