Variant report

Variant	rs970738
Chromosome Location	chr13:80423699-80423700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12429730	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12875666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1335281	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2027146	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2027147	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2027148	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34928706	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4628842	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4885670	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4885676	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4885677	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6563137	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs713614	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs713615	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7319612	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7333650	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7333880	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7338949	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs74099556	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7982512	0.89[CHB][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7983143	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7990168	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7990447	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9530975	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9530976	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9530978	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9530979	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9530983	0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9545235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545236	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9545242	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9545246	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9646080	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80414400-80424000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:80422400-80427200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:80422400-80427400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:80422600-80423800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:80422600-80425000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:80422600-80425200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:80422600-80426000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:80422800-80427200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:80422800-80427400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:80423200-80424400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:80423400-80424000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:80423400-80424200	Enhancers	Fetal Heart	heart
13	chr13:80423600-80423800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:80423600-80427400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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