Variant report

Variant	rs813448
Chromosome Location	chr6:16823439-16823440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1150643	1.00[EUR][1000 genomes]
rs1240816	1.00[EUR][1000 genomes]
rs1240831	0.89[AFR][1000 genomes]
rs1240834	0.85[AFR][1000 genomes]
rs1261677	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1776481	0.80[AFR][1000 genomes]
rs2759208	0.80[AFR][1000 genomes]
rs770944	1.00[EUR][1000 genomes]
rs770945	0.84[AFR][1000 genomes];0.87[AMR][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	nsv532022	chr6:16448152-16825567	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031423	chr6:16467215-16823725	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16820200-16825000	Enhancers	Liver	Liver
2	chr6:16822200-16823800	Enhancers	Hela-S3	cervix
3	chr6:16822200-16824000	Enhancers	NHEK	skin
4	chr6:16822800-16823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:16822800-16823600	Enhancers	HMEC	breast
6	chr6:16822800-16824000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:16822800-16824200	Enhancers	HepG2	liver
8	chr6:16823000-16823800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	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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