Variant report

Variant	rs963740
Chromosome Location	chr13:51096095-51096096
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51094293..51096680-chr13:51098337..51100643,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2286657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs279075	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4603449	0.84[ASN][1000 genomes]
rs61962260	0.90[ASN][1000 genomes]
rs6561582	0.86[ASN][1000 genomes]
rs7983949	0.90[CHB][hapmap]
rs7991128	0.92[ASN][1000 genomes]
rs7994628	0.90[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs9316500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9562984	0.90[ASN][1000 genomes]
rs9562985	0.93[ASN][1000 genomes]
rs9562986	0.97[ASN][1000 genomes]
rs9562987	0.88[EUR][1000 genomes]
rs9568434	0.90[ASN][1000 genomes]
rs9568440	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9568441	1.00[ASN][1000 genomes]
rs9568442	0.95[ASN][1000 genomes]
rs9634835	0.83[CHB][hapmap];0.95[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs963740	ATP7B	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51087800-51102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:51088200-51100800	Weak transcription	Primary B cells from cord blood	blood
3	chr13:51090200-51099200	Enhancers	Liver	Liver
4	chr13:51091000-51096600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:51092400-51098400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr13:51093200-51097800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:51093400-51096200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:51093400-51097200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:51093400-51100000	Weak transcription	Lung	lung
10	chr13:51093400-51100600	Weak transcription	Brain Germinal Matrix	brain
11	chr13:51093400-51101400	Weak transcription	Left Ventricle	heart
12	chr13:51093400-51101600	Weak transcription	Right Atrium	heart
13	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
14	chr13:51093600-51101600	Weak transcription	HSMM	muscle
15	chr13:51093800-51100800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr13:51093800-51101600	Weak transcription	Brain Angular Gyrus	brain
17	chr13:51094000-51096200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr13:51094000-51096200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr13:51094000-51097000	Enhancers	HepG2	liver
20	chr13:51094000-51097800	Enhancers	Fetal Muscle Leg	muscle
21	chr13:51094200-51097200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr13:51094400-51096400	Enhancers	Fetal Thymus	thymus
23	chr13:51094400-51097800	Enhancers	Fetal Kidney	kidney
24	chr13:51094600-51096600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:51094600-51096600	Enhancers	Psoas Muscle	Psoas
26	chr13:51094600-51097800	Enhancers	Colon Smooth Muscle	Colon
27	chr13:51094800-51096400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr13:51094800-51101000	Weak transcription	Pancreas	Pancrea
29	chr13:51095000-51101600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:51095200-51096400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:51095200-51096600	Enhancers	Stomach Mucosa	stomach
32	chr13:51095200-51098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:51095200-51098000	Enhancers	Adipose Nuclei	Adipose
34	chr13:51095200-51098000	Enhancers	Fetal Heart	heart
35	chr13:51095400-51096600	Enhancers	Fetal Intestine Large	intestine
36	chr13:51095400-51096600	Enhancers	Placenta	Placenta
37	chr13:51095400-51096600	Enhancers	Stomach Smooth Muscle	stomach
38	chr13:51095400-51096800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr13:51095400-51097200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:51095400-51097800	Enhancers	Fetal Stomach	stomach
41	chr13:51095400-51098200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:51095600-51096200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:51095600-51096400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:51095600-51096400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:51095600-51096400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr13:51095600-51096400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:51095600-51096600	Enhancers	Brain Anterior Caudate	brain
48	chr13:51095600-51096600	Enhancers	Rectal Smooth Muscle	rectum
49	chr13:51095600-51096600	Enhancers	Thymus	Thymus
50	chr13:51095600-51097600	Enhancers	Fetal Intestine Small	intestine

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