Variant report

Variant	rs6103040
Chromosome Location	chr20:41412033-41412034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs114094	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs17749217	0.84[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs1885834	0.84[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1973949	0.84[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs208254	1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs208255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208256	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55651075	0.80[ASN][1000 genomes]
rs59111183	0.87[ASN][1000 genomes]
rs6030468	0.86[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs6103038	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6103041	0.86[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs73098049	0.80[ASN][1000 genomes]
rs8119733	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][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	nsv915994	chr20:41180550-41464507	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1058990	chr20:41289969-41543912	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544277	chr20:41289969-41543912	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063450	chr20:41409901-41880620	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41407400-41420800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr20:41409600-41413800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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