Variant report

Variant	rs4870734
Chromosome Location	chr8:121610299-121610300
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	chr8:121608620..121610687-chr8:121614325..121616979,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10955976	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242315	0.91[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4330729	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4451342	0.91[CHB][hapmap];0.81[CHD][hapmap]
rs4480161	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871075	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62526664	0.94[ASN][1000 genomes]
rs67339289	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6981480	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987986	0.95[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs6997783	0.82[CHB][hapmap]
rs7006428	0.92[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap]
rs7009902	0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs7015089	0.91[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815260	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823782	0.82[MEX][hapmap]
rs7834651	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7843835	0.82[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:44 , 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	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
6	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:121598600-121611000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:121599000-121615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
11	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:121605800-121610600	Weak transcription	Pancreas	Pancrea
13	chr8:121605800-121644400	Weak transcription	Gastric	stomach
14	chr8:121606200-121626200	Weak transcription	HSMMtube	muscle
15	chr8:121606400-121612800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:121606800-121610600	Strong transcription	Primary T cells from cord blood	blood
17	chr8:121607400-121623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:121608400-121618600	Strong transcription	HepG2	liver
20	chr8:121608600-121613600	Strong transcription	Liver	Liver
21	chr8:121608800-121611600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:121608800-121613400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr8:121609200-121610400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr8:121609200-121612800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:121609200-121614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:121609400-121610400	Enhancers	NHDF-Ad	bronchial
27	chr8:121609400-121611400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:121609600-121610600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:121609600-121610800	Enhancers	HSMM	muscle
30	chr8:121609600-121611000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:121609600-121611400	Enhancers	Osteobl	bone
32	chr8:121609600-121611600	Enhancers	NHLF	lung
33	chr8:121609600-121641000	Weak transcription	Lung	lung
34	chr8:121609800-121611000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:121609800-121611400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:121609800-121613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:121609800-121629000	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:121609800-121629000	Weak transcription	Fetal Stomach	stomach
39	chr8:121610000-121610800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:121610200-121610600	Enhancers	HMEC	breast
41	chr8:121610200-121611000	Enhancers	NH-A	brain
42	chr8:121610200-121611400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:121610200-121613000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:121610200-121623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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