Variant report

Variant	rs10808506
Chromosome Location	chr8:121066470-121066471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121062026..121064422-chr8:121066001..121067878,2	K562	blood:

Variant related genes	Relation type
ENSG00000254343	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10505376	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs10955948	0.83[ASN][1000 genomes]
rs11780912	0.86[ASN][1000 genomes]
rs11780985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12114445	1.00[ASN][1000 genomes]
rs12542895	1.00[ASN][1000 genomes]
rs12543907	0.96[ASN][1000 genomes]
rs12545676	0.89[ASN][1000 genomes]
rs12548223	0.90[JPT][hapmap]
rs12548273	0.86[ASN][1000 genomes]
rs1519812	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs1519813	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs16893478	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16893517	1.00[ASN][1000 genomes]
rs16893536	0.80[JPT][hapmap]
rs16893570	0.80[JPT][hapmap]
rs17226296	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17822044	0.90[JPT][hapmap]
rs2875931	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4871825	0.90[JPT][hapmap]
rs57868486	1.00[ASN][1000 genomes]
rs60717250	0.89[ASN][1000 genomes]
rs60754245	1.00[ASN][1000 genomes]
rs6469895	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs66507952	0.98[ASN][1000 genomes]
rs66614869	0.86[ASN][1000 genomes]
rs6981402	0.96[ASN][1000 genomes]
rs6986231	0.89[ASN][1000 genomes]
rs7007998	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7013298	0.88[CHD][hapmap]
rs7016816	0.86[CHB][hapmap]
rs72675741	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73315941	0.86[ASN][1000 genomes]
rs7816925	0.80[JPT][hapmap]
rs7821947	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7822662	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs7822927	1.00[ASN][1000 genomes]
rs7829101	0.85[CHD][hapmap]
rs7829116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7833073	0.88[CHD][hapmap]
rs7836087	0.85[CHD][hapmap]
rs7840217	0.80[JPT][hapmap]
rs7841230	1.00[ASN][1000 genomes]
rs7841621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7843503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs955293	0.88[CHD][hapmap]
rs960887	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10808506	DEPDC6	cis	lesional skin	skin_eQTL
rs10808506	DEPDC6	cis	uninvolved skin	skin_eQTL
rs10808506	ECHDC2	trans	cerebellum	SCAN
rs10808506	DEPDC6	cis	normal skin	skin_eQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
3	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:121053600-121067200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:121053600-121072800	Weak transcription	Brain Angular Gyrus	brain
6	chr8:121053600-121072800	Weak transcription	Brain Substantia Nigra	brain
7	chr8:121053600-121072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:121053800-121072800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
10	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:121060800-121072800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:121061000-121072800	Weak transcription	Fetal Kidney	kidney
13	chr8:121062400-121066800	Weak transcription	Adipose Nuclei	Adipose
14	chr8:121062400-121073000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:121062600-121069800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:121062600-121072600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:121063000-121072600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:121063000-121072800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:121063000-121073000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:121064200-121074800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:121064400-121069800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:121064400-121072800	Weak transcription	Liver	Liver
23	chr8:121064400-121077200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:121064400-121077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:121064600-121070000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:121064600-121070400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:121064600-121070400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:121064600-121072800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:121064600-121077200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:121065800-121073000	Weak transcription	Fetal Intestine Small	intestine
31	chr8:121066200-121069600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:121066200-121072800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:121066400-121071200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:121066400-121074800	Weak transcription	Gastric	stomach

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