Variant report

Variant	rs6564220
Chromosome Location	chr16:75224194-75224195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1019539	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10871304	0.86[EUR][1000 genomes]
rs1559361	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2870466	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2870467	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4479268	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4887808	0.87[EUR][1000 genomes]
rs4888355	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6564221	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6564222	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6564223	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7205074	0.85[EUR][1000 genomes]
rs8046665	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8050765	0.83[EUR][1000 genomes]
rs8053265	0.86[EUR][1000 genomes]
rs8055472	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8057843	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9921632	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1066130	chr16:74983759-75231161	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr16:75221400-75228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:75223200-75224200	Enhancers	Placenta	Placenta
3	chr16:75223200-75224200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
4	chr16:75223400-75226400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:75223400-75226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:75223800-75226000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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