Variant report

Variant	rs7833073
Chromosome Location	chr8:121094710-121094711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10090001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095205	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10095532	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10101620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10101943	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]
rs10505376	0.96[CEU][hapmap];0.88[CHD][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10808506	0.88[CHD][hapmap]
rs10955948	0.82[EUR][1000 genomes]
rs1120223	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11780912	0.82[EUR][1000 genomes]
rs11780985	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12114445	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12542895	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12543907	0.89[EUR][1000 genomes]
rs12545676	0.82[EUR][1000 genomes]
rs12548273	0.82[EUR][1000 genomes]
rs1519807	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1519808	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1519812	0.84[CHD][hapmap]
rs1519813	0.88[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16893478	0.96[CEU][hapmap];0.88[CHD][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs16893517	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17226296	0.84[CHD][hapmap]
rs1980228	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292946	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]
rs28530768	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2875928	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]
rs2875931	0.96[CEU][hapmap];0.84[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4871828	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56702755	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57868486	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60717250	0.82[EUR][1000 genomes]
rs60754245	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6469894	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469895	0.96[CEU][hapmap];0.88[CHD][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6469897	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66490854	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66507952	0.80[EUR][1000 genomes]
rs66614869	0.82[EUR][1000 genomes]
rs67872361	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980708	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6981402	0.81[EUR][1000 genomes]
rs6986231	0.89[EUR][1000 genomes]
rs6993924	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998730	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7005228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7007998	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]
rs7013298	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs7016816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73315941	0.82[EUR][1000 genomes]
rs7817016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820543	0.84[GIH][hapmap];0.87[JPT][hapmap]
rs7821947	0.90[CEU][hapmap];0.84[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822662	0.96[CEU][hapmap];0.88[CHD][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7822927	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7824793	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7829101	0.88[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7829116	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7830028	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7836087	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841230	0.89[EUR][1000 genomes]
rs7841621	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7843503	0.82[EUR][1000 genomes]
rs955293	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960887	0.81[CEU][hapmap];0.88[CHD][hapmap];0.81[MEX][hapmap];0.82[EUR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7833073	DEPDC6	cis	uninvolved skin	skin_eQTL
rs7833073	DEPDC6	cis	normal skin	skin_eQTL
rs7833073	RP11-760H22.2	cis	Adipose Subcutaneous	GTEx
rs7833073	DEPDC6	cis	lesional skin	skin_eQTL
rs7833073	DEPDC6	cis	multi-tissue	Pritchard

Chromatin state (count:18 , 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	chr8:121093400-121095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:121093400-121095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:121093400-121095800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:121094400-121094800	Enhancers	HepG2	liver
7	chr8:121094400-121095400	Enhancers	Fetal Intestine Large	intestine
8	chr8:121094400-121095800	Enhancers	NH-A	brain
9	chr8:121094400-121096000	Enhancers	Placenta	Placenta
10	chr8:121094400-121097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:121094400-121097600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:121094400-121097600	Enhancers	Osteobl	bone
13	chr8:121094400-121098000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:121094600-121094800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:121094600-121095800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:121094600-121096600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:121094600-121096600	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:121094600-121096800	Enhancers	Ovary	ovary

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