Variant report

Variant	rs7005380
Chromosome Location	chr8:120953873-120953874
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10094587	0.85[JPT][hapmap]
rs10103058	0.85[JPT][hapmap]
rs10107579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10808505	1.00[ASN][1000 genomes]
rs10955941	0.85[JPT][hapmap]
rs10955943	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11781657	0.83[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap]
rs11786315	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11988434	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11995536	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548715	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12681402	0.85[JPT][hapmap]
rs12681623	0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs13257316	0.85[JPT][hapmap]
rs13260933	0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs13282901	0.85[JPT][hapmap]
rs1464276	1.00[ASN][1000 genomes]
rs1467044	0.83[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap]
rs16893258	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1984977	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2037346	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs28513081	0.82[ASN][1000 genomes]
rs4073560	0.85[JPT][hapmap]
rs4870986	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4870988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4870991	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4871013	0.85[JPT][hapmap]
rs4871744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4871772	0.85[JPT][hapmap]
rs4871773	0.85[JPT][hapmap]
rs4871787	1.00[ASN][1000 genomes]
rs5022559	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55892034	1.00[ASN][1000 genomes]
rs56864850	1.00[ASN][1000 genomes]
rs6469861	0.85[JPT][hapmap]
rs6469863	0.85[JPT][hapmap]
rs6469867	0.85[JPT][hapmap]
rs6469868	0.85[JPT][hapmap]
rs6469871	0.85[JPT][hapmap]
rs6469872	0.85[JPT][hapmap]
rs6469878	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6987580	0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs6988011	0.85[JPT][hapmap]
rs6995139	0.85[JPT][hapmap]
rs7000669	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002839	0.85[JPT][hapmap]
rs7387264	0.85[JPT][hapmap]
rs7387694	0.82[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap]
rs7388508	0.85[JPT][hapmap]
rs7462250	0.85[JPT][hapmap]
rs7462302	0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs7465181	0.85[JPT][hapmap]
rs7814294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7824545	0.85[JPT][hapmap]
rs939241	0.85[JPT][hapmap]
rs955372	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9918814	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9918815	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9987332	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	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
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1018953	chr8:120910380-120954832	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Interstitial lung disease	23583980	GWAS catalog

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7005380	DSCC1	cis	cerebellum	SCAN
rs7005380	DSCC1	cis	parietal	SCAN
rs7005380	DEPDC6	cis	cerebellum	SCAN
rs7005380	DEPTOR	cis	Esophagus Muscularis	GTEx
rs7005380	DEPDC6	cis	uninvolved skin	skin_eQTL
rs7005380	DSCC1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120935400-120959200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
3	chr8:120939600-120959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:120944000-120959200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
6	chr8:120945600-120955400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:120947000-120959400	Weak transcription	Left Ventricle	heart
8	chr8:120947200-120954400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:120947200-120958000	Weak transcription	Gastric	stomach
10	chr8:120947400-120955000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:120947400-120955200	Weak transcription	Ovary	ovary
12	chr8:120947400-120963200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:120947400-120964400	Weak transcription	Adipose Nuclei	Adipose
14	chr8:120947400-120968000	Weak transcription	Spleen	Spleen
15	chr8:120947600-120955200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:120947600-120959400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:120947600-120960000	Weak transcription	Liver	Liver
18	chr8:120947600-120960200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:120948600-120954000	Weak transcription	Small Intestine	intestine
20	chr8:120948800-120957200	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:120948800-120959000	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:120948800-120959000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:120949000-120954200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:120949000-120954400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:120949000-120957200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:120949000-120957800	Weak transcription	Brain Anterior Caudate	brain
27	chr8:120950000-120954200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:120950200-120954000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:120950200-120955200	Weak transcription	Fetal Intestine Large	intestine
30	chr8:120950400-120955200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:120951000-120959400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:120951600-120963400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:120951800-120954600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:120952800-120959600	Weak transcription	Fetal Intestine Small	intestine
35	chr8:120953000-120954200	Enhancers	Stomach Mucosa	stomach
36	chr8:120953200-120954400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:120953200-120954600	Enhancers	Fetal Lung	lung
38	chr8:120953600-120954000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:120953800-120954600	Enhancers	Fetal Stomach	stomach
40	chr8:120953800-120955400	Enhancers	Brain Substantia Nigra	brain

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