Variant report

Variant	rs4853508
Chromosome Location	chr2:191302739-191302740
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	chr2:191300907..191304417-chr2:191304488..191309004,4	K562	blood:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11897266	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12464923	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12472240	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12473460	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12613365	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12615925	0.87[EUR][1000 genomes]
rs12619125	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12619560	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12621493	0.80[EUR][1000 genomes]
rs12622496	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693576	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12987797	0.85[EUR][1000 genomes]
rs13013848	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13019278	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13028201	0.85[EUR][1000 genomes]
rs13029743	0.84[EUR][1000 genomes]
rs13391723	0.86[ASN][1000 genomes]
rs2043990	0.81[ASN][1000 genomes]
rs34274882	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34417560	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34825614	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36055519	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811609	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073873	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4129081	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4129697	0.83[AFR][1000 genomes]
rs4264585	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324342	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4853708	0.83[AFR][1000 genomes]
rs4853709	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853718	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4853720	0.85[EUR][1000 genomes]
rs55754136	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55987230	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434400	0.87[EUR][1000 genomes]
rs6707773	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6707846	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6711006	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72911109	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7560318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601745	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608180	0.85[EUR][1000 genomes]

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191279200-191303000	Weak transcription	NHEK	skin
2	chr2:191284200-191311000	Weak transcription	Psoas Muscle	Psoas
3	chr2:191296800-191311400	Weak transcription	Fetal Lung	lung
4	chr2:191297200-191306200	Weak transcription	K562	blood
5	chr2:191297400-191305600	Weak transcription	Small Intestine	intestine
6	chr2:191298400-191304600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:191298400-191306000	Weak transcription	Fetal Kidney	kidney
8	chr2:191298600-191309000	Weak transcription	Stomach Mucosa	stomach
9	chr2:191299400-191304000	Weak transcription	Placenta	Placenta
10	chr2:191299600-191308800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:191299800-191305600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:191300400-191302800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:191300600-191303400	Strong transcription	Dnd41	blood
14	chr2:191300600-191303600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:191300600-191303600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:191300600-191305000	Strong transcription	Primary B cells from cord blood	blood
17	chr2:191300800-191302800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:191300800-191302800	Strong transcription	Primary T cells from cord blood	blood
19	chr2:191300800-191302800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:191300800-191302800	Strong transcription	Colonic Mucosa	Colon
21	chr2:191300800-191302800	Strong transcription	Fetal Brain Female	brain
22	chr2:191300800-191302800	Strong transcription	Fetal Thymus	thymus
23	chr2:191300800-191303200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:191300800-191303400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr2:191300800-191303400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:191300800-191303400	Strong transcription	Thymus	Thymus
27	chr2:191300800-191303800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:191300800-191303800	Strong transcription	Brain Germinal Matrix	brain
29	chr2:191300800-191303800	Strong transcription	Fetal Intestine Large	intestine
30	chr2:191300800-191304400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:191301000-191302800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr2:191301000-191303600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:191301000-191306000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:191301200-191302800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:191301200-191303800	Strong transcription	Ovary	ovary
36	chr2:191301200-191307000	Weak transcription	Fetal Heart	heart
37	chr2:191301400-191303400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:191301400-191303800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:191301400-191303800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:191301600-191303200	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr2:191301600-191304800	Weak transcription	HepG2	liver
42	chr2:191301800-191305800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:191302000-191304000	Weak transcription	Adipose Nuclei	Adipose
44	chr2:191302000-191304200	Weak transcription	GM12878-XiMat	blood
45	chr2:191302000-191305600	Weak transcription	Brain Substantia Nigra	brain
46	chr2:191302000-191307800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:191302200-191303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:191302200-191304000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:191302200-191305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:191302200-191305600	Weak transcription	Gastric	stomach

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