Variant report

Variant	rs8080479
Chromosome Location	chr17:14951115-14951116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12453931	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34308020	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62061411	0.83[EUR][1000 genomes]
rs62061450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62061451	0.85[ASN][1000 genomes]
rs6502423	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6502424	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6502425	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6502426	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs8066296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8066840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076445	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8080703	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909991	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9910466	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv1059356	chr17:14539984-14989685	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1055358	chr17:14612995-14958513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1064686	chr17:14897967-15046005	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3424101	chr17:14948127-14952225	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:14940200-14952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:14943000-14951400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:14943200-14952600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:14944000-14951400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:14944000-14952400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr17:14944400-14951600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:14946000-14957800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:14946200-14951600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:14950800-14953800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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