Variant report

Variant	rs1997216
Chromosome Location	chr6:114070660-114070661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10872106	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11153440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153442	0.81[EUR][1000 genomes]
rs11153450	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12204831	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980375	0.81[CEU][hapmap];0.89[CHB][hapmap]
rs2463311	0.83[ASN][1000 genomes]
rs2498753	0.84[ASN][1000 genomes]
rs2498754	0.82[ASN][1000 genomes]
rs6928789	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7764889	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7773346	0.81[EUR][1000 genomes]
rs9372377	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372379	0.89[CHB][hapmap]
rs9384883	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481393	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9488256	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs954620	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114066400-114071000	Weak transcription	HepG2	liver
2	chr6:114066800-114071000	Weak transcription	Adipose Nuclei	Adipose
3	chr6:114067000-114075800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:114067400-114079200	Weak transcription	Placenta	Placenta
5	chr6:114067800-114070800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:114070400-114071200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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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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