Variant report

Variant	rs73477796
Chromosome Location	chr6:48795992-48795993
allele	A/C
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:16)

rs_ID	r²[population]
rs1938201	0.93[EUR][1000 genomes]
rs1938211	0.93[EUR][1000 genomes]
rs1938212	0.93[EUR][1000 genomes]
rs2263337	0.93[EUR][1000 genomes]
rs2490164	0.93[EUR][1000 genomes]
rs4560644	0.93[EUR][1000 genomes]
rs4576245	0.93[EUR][1000 genomes]
rs4715105	0.93[EUR][1000 genomes]
rs6458632	0.93[EUR][1000 genomes]
rs6921107	0.93[EUR][1000 genomes]
rs6922928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6941368	0.93[EUR][1000 genomes]
rs9349457	0.93[EUR][1000 genomes]
rs9349458	0.93[EUR][1000 genomes]
rs9395412	0.93[EUR][1000 genomes]
rs9395416	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48786200-48796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48794200-48797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:48794600-48796600	Enhancers	HMEC	breast
4	chr6:48795000-48797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:48795200-48796200	Enhancers	A549	lung
6	chr6:48795200-48796400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:48795200-48797000	Enhancers	Stomach Mucosa	stomach
8	chr6:48795200-48797200	Enhancers	NHEK	skin
9	chr6:48795400-48796400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:48795600-48796400	Enhancers	NHLF	lung
11	chr6:48795600-48796400	Weak transcription	Osteobl	bone
12	chr6:48795600-48797400	Enhancers	Hela-S3	cervix
13	chr6:48795800-48796200	Weak transcription	NHDF-Ad	bronchial
14	chr6:48795800-48796400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:48795800-48796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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