Variant report

Variant	rs7007998
Chromosome Location	chr8:121095103-121095104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10090001	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10095205	0.82[EUR][1000 genomes]
rs10095532	0.82[EUR][1000 genomes]
rs10101620	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10101943	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10505376	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808506	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955948	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1120223	0.90[EUR][1000 genomes]
rs11780912	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11780985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114445	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542895	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543907	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545676	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12548223	0.90[JPT][hapmap]
rs12548273	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1519807	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1519808	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1519812	0.85[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs1519813	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16893478	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893536	0.82[CHD][hapmap];0.80[JPT][hapmap]
rs16893570	0.85[ASW][hapmap];0.82[CHD][hapmap];0.80[JPT][hapmap]
rs17226296	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17822044	0.90[JPT][hapmap]
rs1980228	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs2292946	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28530768	0.82[EUR][1000 genomes]
rs2875928	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2875931	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871825	0.90[JPT][hapmap]
rs4871828	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56702755	0.85[EUR][1000 genomes]
rs57868486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60717250	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60754245	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469894	0.87[EUR][1000 genomes]
rs6469895	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469897	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66490854	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66507952	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66614869	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6980708	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs6981402	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986231	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6993924	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6998730	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7000436	0.85[YRI][hapmap]
rs7004815	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7005228	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7013298	0.96[CEU][hapmap];0.84[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7016816	0.96[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72675741	1.00[ASN][1000 genomes]
rs73315941	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7816925	0.80[JPT][hapmap]
rs7817016	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs7821947	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7822662	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822927	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829101	0.80[CEU][hapmap];0.81[CHD][hapmap];0.82[EUR][1000 genomes]
rs7829116	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7830028	0.81[EUR][1000 genomes]
rs7833073	0.96[CEU][hapmap];0.84[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7836087	0.96[CEU][hapmap];0.81[CHD][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7840217	0.80[JPT][hapmap]
rs7841230	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs955293	0.85[CEU][hapmap];0.84[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs960887	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1025923	chr8:121093383-121108706	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7007998	DEPDC6	cis	normal skin	skin_eQTL
rs7007998	DEPDC6	cis	multi-tissue	Pritchard
rs7007998	DEPDC6	cis	uninvolved skin	skin_eQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121075600-121095800	Weak transcription	Gastric	stomach
2	chr8:121091200-121095400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:121093400-121095800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:121094400-121095400	Enhancers	Fetal Intestine Large	intestine
5	chr8:121094400-121095800	Enhancers	NH-A	brain
6	chr8:121094400-121096000	Enhancers	Placenta	Placenta
7	chr8:121094400-121097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:121094400-121097600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:121094400-121097600	Enhancers	Osteobl	bone
10	chr8:121094400-121098000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:121094600-121095800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:121094600-121096600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:121094600-121096600	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:121094600-121096800	Enhancers	Ovary	ovary
15	chr8:121094800-121095200	Weak transcription	Fetal Intestine Small	intestine
16	chr8:121094800-121095800	Enhancers	Right Ventricle	heart
17	chr8:121094800-121096000	Enhancers	NHDF-Ad	bronchial
18	chr8:121094800-121097600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:121095000-121095200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:121095000-121097000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121095000-121097400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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