Variant report

Variant	rs1333383
Chromosome Location	chr20:12710164-12710165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1333391	0.93[ASN][1000 genomes]
rs1333392	0.91[ASN][1000 genomes]
rs2210565	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2210566	0.89[EUR][1000 genomes]
rs2327467	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2327468	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2327469	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2876247	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4814155	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55751885	0.86[ASN][1000 genomes]
rs6033503	0.98[ASN][1000 genomes]
rs6033504	0.98[ASN][1000 genomes]
rs6033505	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6041574	0.88[ASN][1000 genomes]
rs6041580	1.00[ASN][1000 genomes]
rs6041582	0.96[ASN][1000 genomes]
rs6041584	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73261113	0.88[ASN][1000 genomes]
rs73899272	0.88[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	nsv1058919	chr20:11917331-12733316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544183	chr20:11917331-12733316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv18943	chr20:12627634-12841804	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12703200-12724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:12709200-12710400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr20:12709400-12710200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:12709400-12710200	Enhancers	HMEC	breast
5	chr20:12709400-12710400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:12709800-12710200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr20:12710000-12710200	Enhancers	iPS-15b 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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