Variant report

Variant	rs7982512
Chromosome Location	chr13:80445280-80445281
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11149148	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12429730	0.84[AMR][1000 genomes]
rs12430637	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12875666	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1335281	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2027146	0.82[AMR][1000 genomes]
rs2027147	0.82[AMR][1000 genomes]
rs2027148	0.82[AMR][1000 genomes]
rs34928706	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4628842	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4885676	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4885677	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs713614	0.83[AMR][1000 genomes]
rs713615	0.84[AMR][1000 genomes]
rs7319612	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7333650	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7333880	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7338949	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74099556	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7983143	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7990168	0.84[AMR][1000 genomes]
rs7990447	0.84[AMR][1000 genomes]
rs9530976	0.84[AMR][1000 genomes]
rs9530978	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9530979	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9530983	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545235	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9545236	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9545242	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9545246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9646080	0.84[AMR][1000 genomes]
rs970738	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043768	chr13:80398379-80447095	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1048990	chr13:80419496-80456454	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1044254	chr13:80419496-80457686	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80442000-80448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:80443200-80445600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:80443400-80445400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:80443600-80445400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:80443800-80447000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:80444000-80445400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:80444000-80445600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:80444000-80445600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:80444000-80448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:80444200-80445600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:80444200-80445800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:80444600-80447000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:80444600-80447000	Weak transcription	Fetal Thymus	thymus
14	chr13:80444800-80445800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:80444800-80448600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:80444800-80448600	Weak transcription	Fetal Brain Male	brain
17	chr13:80444800-80448600	Weak transcription	NHEK	skin
18	chr13:80445000-80445400	Weak transcription	Thymus	Thymus
19	chr13:80445000-80448600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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