Variant report

Variant	rs7008488
Chromosome Location	chr8:121609298-121609299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121608620..121610687-chr8:121614325..121616979,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10108821	0.82[AMR][1000 genomes]
rs10109195	0.83[AMR][1000 genomes]
rs10113166	0.94[MEX][hapmap];0.82[AMR][1000 genomes]
rs10808513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264056	0.83[ASN][1000 genomes]
rs13264768	0.83[ASN][1000 genomes]
rs4870735	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871072	0.90[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs55704534	0.82[AMR][1000 genomes]
rs7017780	0.94[MEX][hapmap]
rs7812594	0.94[MEX][hapmap];0.82[AMR][1000 genomes]
rs7835353	0.94[MEX][hapmap]

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
7	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:121598600-121611000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:121599000-121615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
12	chr8:121602800-121609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:121605600-121610200	Weak transcription	NH-A	brain
15	chr8:121605800-121609600	Weak transcription	Osteobl	bone
16	chr8:121605800-121610600	Weak transcription	Pancreas	Pancrea
17	chr8:121605800-121644400	Weak transcription	Gastric	stomach
18	chr8:121606200-121609400	Weak transcription	NHDF-Ad	bronchial
19	chr8:121606200-121609600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:121606200-121609600	Weak transcription	HSMM	muscle
21	chr8:121606200-121609600	Weak transcription	NHLF	lung
22	chr8:121606200-121609800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:121606200-121626200	Weak transcription	HSMMtube	muscle
24	chr8:121606400-121612800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:121606800-121609400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:121606800-121610600	Strong transcription	Primary T cells from cord blood	blood
27	chr8:121607000-121609800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:121607400-121623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
30	chr8:121608400-121618600	Strong transcription	HepG2	liver
31	chr8:121608600-121613600	Strong transcription	Liver	Liver
32	chr8:121608800-121611600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:121608800-121613400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:121609200-121609400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr8:121609200-121609600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr8:121609200-121609800	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr8:121609200-121609800	ZNF genes & repeats	Fetal Stomach	stomach
38	chr8:121609200-121610000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:121609200-121610400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr8:121609200-121612800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:121609200-121614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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