Variant report

Variant	rs1143630
Chromosome Location	chr2:113591655-113591656
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	chr2:113541166..113543599-chr2:113589793..113591896,2	K562	blood:
2	chr2:113590769..113594416-chr2:113606347..113611014,4	K562	blood:

Variant related genes	Relation type
ENSG00000115008	Chromatin interaction
ENSG00000180152	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10192907	0.88[AMR][1000 genomes]
rs17042498	1.00[CEU][hapmap]
rs2708915	0.81[AMR][1000 genomes]
rs2708930	0.85[AMR][1000 genomes]
rs2723157	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2723158	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4369864	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4439960	0.81[AMR][1000 genomes]
rs4547538	0.85[AMR][1000 genomes]
rs4619621	0.85[AMR][1000 genomes]
rs4849126	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4849127	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56100202	0.81[EUR][1000 genomes]
rs6542102	0.85[AMR][1000 genomes]

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113582400-113592000	Weak transcription	NH-A	brain
2	chr2:113583000-113592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:113583600-113592000	Weak transcription	Osteobl	bone
4	chr2:113587600-113593800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:113588000-113593600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:113588800-113591800	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:113589000-113593600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
8	chr2:113589000-113594000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
9	chr2:113589400-113592200	Weak transcription	Pancreas	Pancrea
10	chr2:113589600-113591800	Weak transcription	Stomach Mucosa	stomach
11	chr2:113589600-113594800	Weak transcription	Esophagus	oesophagus
12	chr2:113590000-113593400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:113590000-113594000	Transcr. at gene 5' and 3'	NHEK	skin
14	chr2:113590200-113591800	Enhancers	HepG2	liver
15	chr2:113590200-113593400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:113590400-113593600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:113590400-113595200	Enhancers	Fetal Intestine Small	intestine
18	chr2:113590600-113593000	Weak transcription	GM12878-XiMat	blood
19	chr2:113590600-113596000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:113590800-113592800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:113591000-113592200	Weak transcription	Spleen	Spleen
22	chr2:113591000-113592400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:113591200-113591800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:113591200-113592400	Enhancers	Small Intestine	intestine
25	chr2:113591200-113592600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr2:113591200-113593200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:113591200-113593200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:113591200-113593200	Enhancers	Hela-S3	cervix
29	chr2:113591200-113593400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:113591200-113595000	Enhancers	Fetal Intestine Large	intestine
31	chr2:113591200-113600200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:113591400-113591800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:113591400-113592200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:113591400-113592400	Weak transcription	Colonic Mucosa	Colon
35	chr2:113591600-113592200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:113591600-113592400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr2:113591600-113592400	Enhancers	HUVEC	blood vessel
38	chr2:113591600-113592600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:113591600-113592800	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:113591600-113592800	Enhancers	Liver	Liver
41	chr2:113591600-113593000	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:113591600-113593200	Transcr. at gene 5' and 3'	HMEC	breast
43	chr2:113591600-113593600	Active TSS	Primary B cells from cord blood	blood
44	chr2:113591600-113595000	Enhancers	Adipose Nuclei	Adipose

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