Variant report

Variant	rs6040608
Chromosome Location	chr20:11372666-11372667
allele	C/T
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]
rs4610128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040600	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6040603	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6040605	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6040611	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040615	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040618	0.92[AFR][1000 genomes]
rs6040626	0.91[AFR][1000 genomes]
rs6078159	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6078166	0.86[AFR][1000 genomes]
rs73245659	0.94[AFR][1000 genomes]
rs910259	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs996383	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs996384	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs996385	0.94[EUR][1000 genomes];0.94[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	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	chr20:11370000-11374800	Weak transcription	NH-A	brain
2	chr20:11370400-11374600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:11370600-11374000	Weak transcription	HMEC	breast
4	chr20:11370600-11374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:11370600-11374200	Weak transcription	NHEK	skin
6	chr20:11371800-11373200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr20:11372200-11375800	Weak transcription	A549	lung

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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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