Variant report

Variant	rs7004815
Chromosome Location	chr8:121082391-121082392
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	chr8:121075759..121078514-chr8:121080982..121082619,2	K562	blood:
2	chr8:121082264..121084470-chr8:121096952..121099036,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10090001	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095205	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10095532	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10101620	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505376	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955948	0.82[EUR][1000 genomes]
rs1120223	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11780912	0.82[EUR][1000 genomes]
rs11780985	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12114445	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12542895	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12543907	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12545676	0.81[EUR][1000 genomes]
rs12548273	0.82[EUR][1000 genomes]
rs1519807	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1519808	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1519813	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16893478	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16893517	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1980228	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28530768	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2875928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875931	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4871828	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56702755	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57868486	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60717250	0.82[EUR][1000 genomes]
rs60754245	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469894	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469895	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6469897	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66490854	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66507952	0.81[EUR][1000 genomes]
rs66614869	0.82[EUR][1000 genomes]
rs67872361	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980708	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6981402	0.81[EUR][1000 genomes]
rs6986231	0.90[EUR][1000 genomes]
rs6993924	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998730	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007998	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7013298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73315941	0.81[EUR][1000 genomes]
rs7817016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820543	0.87[JPT][hapmap]
rs7821947	0.90[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822662	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7822927	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7824793	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7829101	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7829116	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7830028	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7833073	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]
rs7836087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841230	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7841621	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7843503	0.81[EUR][1000 genomes]
rs955293	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960887	0.81[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7004815	DEPDC6	cis	normal skin	skin_eQTL
rs7004815	DEPDC6	cis	lesional skin	skin_eQTL
rs7004815	DEPDC6	cis	uninvolved skin	skin_eQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:121075600-121083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:121075600-121083000	Enhancers	Stomach Mucosa	stomach
4	chr8:121075600-121095800	Weak transcription	Gastric	stomach
5	chr8:121076000-121085400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:121076600-121083200	Enhancers	Fetal Intestine Large	intestine
7	chr8:121077200-121083200	Enhancers	Fetal Intestine Small	intestine
8	chr8:121078200-121082600	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:121078600-121082400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:121078800-121082600	Enhancers	Pancreas	Pancrea
11	chr8:121078800-121083400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:121079000-121083400	Enhancers	Fetal Kidney	kidney
13	chr8:121079200-121083000	Enhancers	NHEK	skin
14	chr8:121079800-121082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:121080000-121082600	Enhancers	HMEC	breast
16	chr8:121080200-121082800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:121080200-121083200	Enhancers	Colon Smooth Muscle	Colon
18	chr8:121080400-121082600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:121080600-121083200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:121080800-121082800	Enhancers	Liver	Liver
21	chr8:121081000-121084400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:121081200-121085400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:121081400-121082400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:121081400-121082400	Weak transcription	HepG2	liver
25	chr8:121081400-121083400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:121081400-121083400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:121081400-121083600	Enhancers	Psoas Muscle	Psoas
28	chr8:121081400-121085400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:121081400-121085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:121081600-121083200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:121081600-121083400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:121081800-121083200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:121081800-121083200	Enhancers	NHLF	lung
34	chr8:121081800-121083400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:121081800-121083600	Enhancers	Placenta	Placenta
36	chr8:121082000-121082600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:121082000-121082600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:121082000-121082600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:121082000-121082800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:121082000-121082800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr8:121082000-121083000	Enhancers	Adipose Nuclei	Adipose
42	chr8:121082000-121083000	Enhancers	Fetal Lung	lung
43	chr8:121082000-121083000	Enhancers	Osteobl	bone
44	chr8:121082000-121083600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:121082200-121082400	Enhancers	Rectal Smooth Muscle	rectum
46	chr8:121082200-121082400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:121082200-121082600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:121082200-121082600	Enhancers	Duodenum Mucosa	Duodenum
49	chr8:121082200-121082600	Enhancers	Fetal Muscle Trunk	muscle
50	chr8:121082200-121082600	Enhancers	Ovary	ovary

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