Variant report

Variant	rs28446902
Chromosome Location	chr2:54217928-54217929
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10192559	0.83[AFR][1000 genomes]
rs10202303	0.83[AFR][1000 genomes]
rs10204967	0.91[AFR][1000 genomes]
rs1057514	0.91[AFR][1000 genomes]
rs13412072	1.00[AFR][1000 genomes]
rs13429520	0.83[AFR][1000 genomes]
rs28656266	0.92[AFR][1000 genomes]
rs28705985	0.91[AFR][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	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54199000-54221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54199000-54228800	Weak transcription	Aorta	Aorta
3	chr2:54200400-54218400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:54204400-54226400	Weak transcription	Pancreas	Pancrea
5	chr2:54205200-54222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:54206000-54221600	Weak transcription	Thymus	Thymus
7	chr2:54206000-54226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:54206400-54220000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:54208200-54221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:54208400-54248200	Weak transcription	Lung	lung
11	chr2:54208600-54219000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:54208600-54220200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:54209000-54221400	Weak transcription	Fetal Thymus	thymus
14	chr2:54209000-54221600	Weak transcription	Dnd41	blood
15	chr2:54211200-54219000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:54211200-54220600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:54211400-54220200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
20	chr2:54214800-54219000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:54215000-54219000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:54215000-54219200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:54215000-54220600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:54215000-54226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:54215000-54226000	Weak transcription	HSMMtube	muscle
26	chr2:54215000-54242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:54215200-54219200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:54215200-54219400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:54215200-54220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:54215200-54220000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:54215200-54220400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:54215200-54220400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:54215200-54225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:54215400-54220200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:54215400-54220200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:54216400-54242000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:54216600-54226400	Weak transcription	Ovary	ovary
38	chr2:54217000-54219000	Weak transcription	Primary T cells from cord blood	blood
39	chr2:54217000-54225600	Weak transcription	Right Atrium	heart
40	chr2:54217000-54225800	Weak transcription	Psoas Muscle	Psoas
41	chr2:54217000-54226000	Weak transcription	Adipose Nuclei	Adipose
42	chr2:54217000-54226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:54217000-54236600	Weak transcription	Brain Angular Gyrus	brain
44	chr2:54217000-54236800	Weak transcription	Brain Anterior Caudate	brain
45	chr2:54217000-54248200	Weak transcription	Gastric	stomach
46	chr2:54217200-54233800	Weak transcription	HepG2	liver
47	chr2:54217200-54239600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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