Variant report

Variant	rs6563130
Chromosome Location	chr13:80252181-80252182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12583029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12583361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12853669	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12872859	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12873323	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12873970	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12874186	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17071691	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17071740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17071744	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17071769	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2208937	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329127	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28882153	0.81[AMR][1000 genomes]
rs34574726	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34629137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34757198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34993149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335681	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4506784	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4597201	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55902954	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58360508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60407730	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563120	0.90[EUR][1000 genomes]
rs6563123	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6563124	0.84[AFR][1000 genomes]
rs6563128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71436528	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71436529	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7324718	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7324768	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7329850	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7333099	0.86[AFR][1000 genomes]
rs7333290	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7335083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7983451	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7983467	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7999478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8001082	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900589	chr13:80250511-80310295	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80238600-80255000	Weak transcription	Psoas Muscle	Psoas
2	chr13:80246600-80260600	Weak transcription	Fetal Lung	lung
3	chr13:80248000-80254800	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:80248600-80252400	Weak transcription	HSMMtube	muscle
5	chr13:80249200-80253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:80249800-80252200	Weak transcription	HMEC	breast
7	chr13:80250000-80253400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:80250400-80252800	Enhancers	Fetal Intestine Small	intestine
9	chr13:80250600-80255200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:80250800-80252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:80250800-80252600	Weak transcription	NHEK	skin
12	chr13:80251200-80252200	Enhancers	Fetal Stomach	stomach
13	chr13:80251400-80254800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:80252000-80252200	Enhancers	Aorta	Aorta
15	chr13:80252000-80252400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:80252000-80252400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:80252000-80252600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:80252000-80253000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:80252000-80253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:80252000-80253400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:80252000-80253400	Enhancers	HSMM	muscle
22	chr13:80252000-80253600	Enhancers	Muscle Satellite Cultured Cells	--

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