Variant report

Variant	rs12594252
Chromosome Location	chr15:49608867-49608868
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	chr15:49607718..49611468-chr15:49618042..49620609,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10431777	0.92[EUR][1000 genomes]
rs11070688	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11070689	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1904315	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2086255	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57815447	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727219	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72727221	0.85[ASN][1000 genomes]
rs72727224	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727237	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727243	0.85[ASN][1000 genomes]
rs72727256	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8031414	0.93[EUR][1000 genomes]
rs8039064	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8043168	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49557200-49611800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:49558000-49624400	Weak transcription	Esophagus	oesophagus
3	chr15:49558200-49611800	Weak transcription	Colonic Mucosa	Colon
4	chr15:49562200-49626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:49563600-49611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:49566200-49611800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:49566600-49623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:49573600-49613000	Weak transcription	Brain Germinal Matrix	brain
9	chr15:49573800-49622200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:49576800-49611800	Weak transcription	Thymus	Thymus
11	chr15:49577800-49611600	Weak transcription	Fetal Brain Female	brain
12	chr15:49578200-49611000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:49578400-49611200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:49579400-49612000	Weak transcription	HUVEC	blood vessel
15	chr15:49580600-49615600	Weak transcription	Fetal Brain Male	brain
16	chr15:49582200-49611400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:49582600-49628200	Weak transcription	Spleen	Spleen
18	chr15:49583200-49611400	Weak transcription	Small Intestine	intestine
19	chr15:49585600-49612800	Weak transcription	Fetal Thymus	thymus
20	chr15:49586000-49617000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:49586200-49611200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr15:49588800-49611200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:49588800-49611600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:49594000-49619400	Weak transcription	Stomach Mucosa	stomach
25	chr15:49595800-49611200	Weak transcription	Aorta	Aorta
26	chr15:49596200-49611400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:49596800-49611000	Weak transcription	Placenta	Placenta
28	chr15:49596800-49611800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:49596800-49620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:49597000-49611800	Weak transcription	Brain Anterior Caudate	brain
31	chr15:49597000-49612000	Weak transcription	HepG2	liver
32	chr15:49597200-49611000	Weak transcription	Dnd41	blood
33	chr15:49597200-49613200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:49597200-49622200	Weak transcription	NH-A	brain
35	chr15:49597200-49624800	Weak transcription	Fetal Kidney	kidney
36	chr15:49597400-49610200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr15:49597400-49611000	Weak transcription	Fetal Intestine Large	intestine
38	chr15:49597400-49624200	Weak transcription	K562	blood
39	chr15:49598000-49609000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:49598200-49611800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr15:49598200-49611800	Weak transcription	Primary B cells from cord blood	blood
42	chr15:49598600-49611000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:49598600-49611600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:49599200-49636800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:49601200-49611000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:49601400-49611000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:49601400-49611200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr15:49601400-49611200	Weak transcription	Pancreas	Pancrea
49	chr15:49601400-49611800	Weak transcription	Right Ventricle	heart
50	chr15:49602400-49611800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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