Variant report

Variant	rs6996625
Chromosome Location	chr8:121612602-121612603
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10093840	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10098324	0.99[ASN][1000 genomes]
rs10111936	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11775515	0.83[ASN][1000 genomes]
rs12675712	1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4409432	1.00[CHB][hapmap]
rs4433191	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4475531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4510903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5019650	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57160393	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6469938	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6994929	0.90[ASN][1000 genomes]
rs9969407	0.89[ASN][1000 genomes]
rs9969413	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
5	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:121599000-121615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
9	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:121605800-121644400	Weak transcription	Gastric	stomach
11	chr8:121606200-121626200	Weak transcription	HSMMtube	muscle
12	chr8:121606400-121612800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:121607400-121623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:121608400-121618600	Strong transcription	HepG2	liver
16	chr8:121608600-121613600	Strong transcription	Liver	Liver
17	chr8:121608800-121613400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr8:121609200-121612800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:121609200-121614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:121609600-121641000	Weak transcription	Lung	lung
21	chr8:121609800-121613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:121609800-121629000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:121609800-121629000	Weak transcription	Fetal Stomach	stomach
24	chr8:121610200-121613000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:121610200-121623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:121610400-121627400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:121610600-121619800	Weak transcription	Primary T cells from cord blood	blood
28	chr8:121610800-121629800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:121611000-121613200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr8:121611000-121615000	Enhancers	NHDF-Ad	bronchial
31	chr8:121611400-121612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:121611400-121613000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:121611400-121613000	Weak transcription	Pancreas	Pancrea
34	chr8:121611400-121624400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:121612000-121613000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:121612200-121614800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:121612400-121613400	Genic enhancers	NHLF	lung
38	chr8:121612400-121613600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:121612400-121614000	Enhancers	HSMM	muscle
40	chr8:121612400-121614600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:121612400-121614600	Enhancers	Osteobl	bone
42	chr8:121612600-121613400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:121612600-121613400	Enhancers	HMEC	breast
44	chr8:121612600-121613600	Enhancers	NHEK	skin
45	chr8:121612600-121614000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:121612600-121614000	Enhancers	NH-A	brain
47	chr8:121612600-121614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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