Variant report

Variant	rs7820543
Chromosome Location	chr8:121046348-121046349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10095205	0.83[ASN][1000 genomes]
rs10095532	0.83[ASN][1000 genomes]
rs10101943	0.87[JPT][hapmap]
rs1519807	0.83[ASN][1000 genomes]
rs1519808	0.83[ASN][1000 genomes]
rs1519813	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs1980228	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2292946	0.87[JPT][hapmap]
rs28530768	0.83[ASN][1000 genomes]
rs2875928	0.86[JPT][hapmap]
rs67872361	0.83[ASN][1000 genomes]
rs6980708	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7004815	0.87[JPT][hapmap]
rs7005228	0.87[JPT][hapmap]
rs7013298	0.84[GIH][hapmap];0.87[JPT][hapmap]
rs7016816	0.86[JPT][hapmap]
rs7817016	0.87[JPT][hapmap]
rs7824793	0.85[ASN][1000 genomes]
rs7829101	0.82[GIH][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7830028	0.85[ASN][1000 genomes]
rs7833073	0.84[GIH][hapmap];0.87[JPT][hapmap]
rs7836087	0.87[JPT][hapmap]
rs955293	0.84[GIH][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7820543	DEPDC6	cis	normal skin	skin_eQTL
rs7820543	DSCC1	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
2	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
3	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
5	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:121029800-121048400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:121032000-121058000	Weak transcription	Pancreas	Pancrea
8	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:121041800-121046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
12	chr8:121042400-121048000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:121042400-121048000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:121042600-121048000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:121042600-121048000	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:121043800-121046600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:121044000-121046400	Strong transcription	Brain Substantia Nigra	brain
18	chr8:121044000-121048000	Genic enhancers	Fetal Stomach	stomach
19	chr8:121044800-121046400	Strong transcription	Gastric	stomach
20	chr8:121044800-121046600	Enhancers	Rectal Smooth Muscle	rectum
21	chr8:121044800-121048200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:121044800-121049000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:121044800-121049400	Enhancers	Osteobl	bone
24	chr8:121044800-121050000	Enhancers	Ovary	ovary
25	chr8:121045000-121048000	Weak transcription	Fetal Intestine Large	intestine
26	chr8:121045000-121056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:121045200-121053400	Weak transcription	Liver	Liver
28	chr8:121045400-121046400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:121045400-121046600	Enhancers	NHEK	skin
30	chr8:121045400-121049400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:121045600-121046400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:121045600-121046400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:121045600-121046600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:121045600-121046600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:121045800-121046400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:121045800-121046400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:121045800-121046600	Enhancers	NHDF-Ad	bronchial
38	chr8:121046000-121046400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr8:121046000-121046400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:121046000-121046400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:121046000-121046400	Enhancers	Esophagus	oesophagus
42	chr8:121046000-121046400	Enhancers	Placenta	Placenta
43	chr8:121046000-121048400	Enhancers	Colon Smooth Muscle	Colon
44	chr8:121046000-121049400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:121046200-121046400	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr8:121046200-121046600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:121046200-121047200	Weak transcription	Fetal Intestine Small	intestine
48	chr8:121046200-121047200	Weak transcription	Fetal Kidney	kidney
49	chr8:121046200-121047200	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:121046200-121047600	Weak transcription	Stomach Smooth Muscle	stomach

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