Variant report

Variant	rs61122863
Chromosome Location	chr20:40734165-40734166
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs56165650	1.00[AMR][1000 genomes]
rs57040102	0.83[AMR][1000 genomes]
rs58841508	0.82[AFR][1000 genomes]
rs6016681	0.82[AFR][1000 genomes]
rs6016682	0.82[AFR][1000 genomes]
rs6016683	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6016684	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6029961	0.85[AMR][1000 genomes]
rs6029962	1.00[AMR][1000 genomes]
rs6029967	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6029968	1.00[AMR][1000 genomes]
rs6029969	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6029970	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6029971	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6029973	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6029977	1.00[AMR][1000 genomes]
rs6029978	1.00[AMR][1000 genomes]
rs6513765	0.82[AFR][1000 genomes]
rs7266940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73129186	0.82[AFR][1000 genomes]
rs7347140	1.00[AMR][1000 genomes]
rs73907081	0.85[AMR][1000 genomes]
rs73907101	1.00[AMR][1000 genomes]
rs73909211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8123173	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8123284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8123286	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8124637	0.82[AFR][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	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40715800-40757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40722800-40747200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr20:40723200-40741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:40731200-40742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr20:40733800-40742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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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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