Variant report

Variant	rs9316500
Chromosome Location	chr13:51094114-51094115
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2286657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs279075	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4603449	0.83[ASN][1000 genomes]
rs61962260	0.89[ASN][1000 genomes]
rs6561582	0.84[ASN][1000 genomes]
rs7983949	0.90[CHB][hapmap]
rs7991128	0.90[ASN][1000 genomes]
rs7994628	0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9562984	0.88[ASN][1000 genomes]
rs9562985	0.92[ASN][1000 genomes]
rs9562986	0.95[ASN][1000 genomes]
rs9562987	0.88[EUR][1000 genomes]
rs9568434	0.89[ASN][1000 genomes]
rs9568440	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9568441	0.98[ASN][1000 genomes]
rs9568442	0.94[ASN][1000 genomes]
rs9634835	0.83[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs963740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Pulmonary function decline	22424883	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9316500	ATP7B	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51087200-51095400	Weak transcription	Right Ventricle	heart
2	chr13:51087600-51094800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:51087600-51095200	Weak transcription	Small Intestine	intestine
4	chr13:51087600-51095600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:51087800-51102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:51088000-51095200	Weak transcription	Stomach Mucosa	stomach
7	chr13:51088000-51095400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr13:51088200-51100800	Weak transcription	Primary B cells from cord blood	blood
9	chr13:51089200-51094600	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:51089200-51095400	Weak transcription	Fetal Intestine Large	intestine
11	chr13:51089200-51095600	Weak transcription	Fetal Intestine Small	intestine
12	chr13:51090200-51099200	Enhancers	Liver	Liver
13	chr13:51090800-51095600	Enhancers	Fetal Lung	lung
14	chr13:51091000-51094800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:51091000-51096600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr13:51091800-51094400	Weak transcription	Fetal Kidney	kidney
17	chr13:51092400-51094800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:51092400-51095600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:51092400-51098400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:51092800-51094200	Weak transcription	Fetal Brain Male	brain
21	chr13:51092800-51094800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr13:51092800-51095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:51093200-51097800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:51093400-51094200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:51093400-51094200	Weak transcription	Pancreas	Pancrea
26	chr13:51093400-51094400	Weak transcription	Fetal Thymus	thymus
27	chr13:51093400-51094600	Weak transcription	Gastric	stomach
28	chr13:51093400-51094600	Weak transcription	Psoas Muscle	Psoas
29	chr13:51093400-51094800	Enhancers	Brain Anterior Caudate	brain
30	chr13:51093400-51095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:51093400-51095400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr13:51093400-51095400	Weak transcription	Placenta	Placenta
33	chr13:51093400-51095400	Weak transcription	Fetal Stomach	stomach
34	chr13:51093400-51095600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:51093400-51095600	Enhancers	Brain Hippocampus Middle	brain
36	chr13:51093400-51095600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr13:51093400-51095600	Weak transcription	Thymus	Thymus
38	chr13:51093400-51095800	Weak transcription	Osteobl	bone
39	chr13:51093400-51096200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr13:51093400-51097200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr13:51093400-51100000	Weak transcription	Lung	lung
42	chr13:51093400-51100600	Weak transcription	Brain Germinal Matrix	brain
43	chr13:51093400-51101400	Weak transcription	Left Ventricle	heart
44	chr13:51093400-51101600	Weak transcription	Right Atrium	heart
45	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
46	chr13:51093600-51095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:51093600-51096000	Enhancers	Brain Substantia Nigra	brain
48	chr13:51093600-51101600	Weak transcription	HSMM	muscle
49	chr13:51093800-51095200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:51093800-51100800	Weak transcription	Brain Cingulate Gyrus	brain

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