Variant report

Variant	rs2498586
Chromosome Location	chr6:118026126-118026127
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	chr6:118024968..118027166-chr6:118033467..118035256,2	K562	blood:
2	chr6:118011572..118014169-chr6:118023692..118026342,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10872155	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11153693	0.80[ASN][1000 genomes]
rs11153695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2498587	1.00[CEU][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs2498588	1.00[CEU][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs2498589	0.89[EUR][1000 genomes]
rs2501625	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4330560	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4406269	1.00[CEU][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs4552764	0.93[EUR][1000 genomes]
rs6899715	1.00[CEU][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs72951506	0.88[EUR][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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117998200-118026400	Weak transcription	Esophagus	oesophagus
2	chr6:117999000-118039800	Weak transcription	Gastric	stomach
3	chr6:117999000-118042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:117999200-118028200	Weak transcription	Hela-S3	cervix
5	chr6:117999200-118029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:118000800-118029400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:118001200-118027400	Weak transcription	Thymus	Thymus
8	chr6:118002600-118027600	Weak transcription	Brain Angular Gyrus	brain
9	chr6:118003000-118026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:118003800-118026600	Weak transcription	Lung	lung
11	chr6:118006000-118026600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:118008800-118029600	Weak transcription	Colonic Mucosa	Colon
13	chr6:118009400-118039800	Weak transcription	Small Intestine	intestine
14	chr6:118012600-118039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:118014400-118029000	Weak transcription	A549	lung
16	chr6:118015600-118030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:118016600-118029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:118016600-118040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:118016800-118026400	Weak transcription	Aorta	Aorta
20	chr6:118016800-118028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:118016800-118029400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:118016800-118032400	Weak transcription	Fetal Stomach	stomach
23	chr6:118017000-118026600	Weak transcription	Right Ventricle	heart
24	chr6:118017000-118029800	Weak transcription	Brain Substantia Nigra	brain
25	chr6:118017000-118033200	Weak transcription	Fetal Intestine Small	intestine
26	chr6:118017000-118040000	Weak transcription	Pancreas	Pancrea
27	chr6:118017400-118026600	Weak transcription	Brain Germinal Matrix	brain
28	chr6:118017600-118029400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:118017800-118029400	Weak transcription	Fetal Brain Male	brain
30	chr6:118018000-118027400	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:118018000-118029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:118018000-118029600	Weak transcription	Psoas Muscle	Psoas
33	chr6:118018600-118027400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:118018800-118026200	Weak transcription	HUVEC	blood vessel
35	chr6:118019000-118026600	Weak transcription	Fetal Brain Female	brain
36	chr6:118021600-118028400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:118021600-118032600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:118021800-118027000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:118021800-118028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:118021800-118028400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:118022600-118028200	Strong transcription	HepG2	liver
42	chr6:118022800-118028000	Strong transcription	HSMM	muscle
43	chr6:118022800-118028200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:118022800-118028200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:118022800-118028400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:118022800-118028400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:118022800-118028400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:118023000-118026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:118023000-118027200	Strong transcription	HSMMtube	muscle
50	chr6:118023000-118027800	Strong transcription	Primary B cells from peripheral blood	blood

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