Variant report

Variant	rs279075
Chromosome Location	chr13:51100714-51100715
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50698611..50701082-chr13:51100302..51101813,2	MCF-7	breast:
2	chr13:50698015..50701526-chr13:51100615..51103673,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2286657	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4603449	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61962260	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6561582	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7983949	0.84[CHB][hapmap]
rs7991128	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7994628	0.95[CEU][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9316500	0.90[ASN][1000 genomes]
rs9562984	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9562985	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9562986	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568434	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568440	0.90[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568441	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568442	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9634835	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs963740	0.91[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
rs279075	ATP7B	cis	parietal	SCAN

Chromatin state (count:66 , 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	chr13:51093400-51101400	Weak transcription	Left Ventricle	heart
4	chr13:51093400-51101600	Weak transcription	Right Atrium	heart
5	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
6	chr13:51093600-51101600	Weak transcription	HSMM	muscle
7	chr13:51093800-51100800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr13:51093800-51101600	Weak transcription	Brain Angular Gyrus	brain
9	chr13:51094800-51101000	Weak transcription	Pancreas	Pancrea
10	chr13:51095000-51101600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:51095800-51102000	Weak transcription	Right Ventricle	heart
12	chr13:51096000-51100800	Weak transcription	Brain Substantia Nigra	brain
13	chr13:51096000-51100800	Weak transcription	NHLF	lung
14	chr13:51096000-51101800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr13:51096000-51103200	Weak transcription	Ovary	ovary
16	chr13:51096200-51101400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:51096200-51102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:51096600-51100800	Weak transcription	Brain Anterior Caudate	brain
21	chr13:51096600-51100800	Weak transcription	Placenta	Placenta
22	chr13:51096600-51100800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr13:51096600-51101000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:51096600-51103400	Weak transcription	Small Intestine	intestine
25	chr13:51097200-51100800	Weak transcription	Psoas Muscle	Psoas
26	chr13:51097200-51102800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:51097600-51100800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:51097600-51100800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:51097600-51103400	Weak transcription	Fetal Intestine Small	intestine
30	chr13:51097800-51101400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr13:51097800-51101600	Weak transcription	Fetal Kidney	kidney
32	chr13:51098000-51101000	Weak transcription	Adipose Nuclei	Adipose
33	chr13:51098200-51101000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:51098600-51102000	Weak transcription	NHDF-Ad	bronchial
35	chr13:51098600-51103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:51099200-51103200	Weak transcription	Liver	Liver
37	chr13:51099600-51103000	Enhancers	Dnd41	blood
38	chr13:51099800-51104000	Enhancers	Fetal Muscle Leg	muscle
39	chr13:51099800-51104000	Enhancers	Fetal Thymus	thymus
40	chr13:51099800-51104000	Enhancers	Thymus	Thymus
41	chr13:51100000-51102600	Enhancers	Primary B cells from peripheral blood	blood
42	chr13:51100000-51102800	Enhancers	Fetal Heart	heart
43	chr13:51100000-51105200	Enhancers	Primary T cells from cord blood	blood
44	chr13:51100200-51100800	Weak transcription	Lung	lung
45	chr13:51100200-51101800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:51100200-51101800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr13:51100400-51100800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr13:51100400-51101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:51100400-51101200	Enhancers	Fetal Lung	lung
50	chr13:51100400-51101800	Enhancers	Fetal Stomach	stomach

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