Variant report

Variant	rs73760550
Chromosome Location	chr5:61378920-61378921
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:11)

rs_ID	r²[population]
rs16898785	1.00[AMR][1000 genomes]
rs6895859	1.00[AMR][1000 genomes]
rs73760521	1.00[AMR][1000 genomes]
rs73760524	1.00[AMR][1000 genomes]
rs73760525	1.00[AMR][1000 genomes]
rs73760529	1.00[AMR][1000 genomes]
rs73760534	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73760535	1.00[AMR][1000 genomes]
rs73760536	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73760557	1.00[AMR][1000 genomes]
rs73760563	1.00[AMR][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	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv830317	chr5:61298840-61478113	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61376600-61381200	Enhancers	HMEC	breast
2	chr5:61377000-61380200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:61377200-61380200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:61377200-61380400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:61377400-61379600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:61377600-61379200	Enhancers	HSMMtube	muscle
7	chr5:61377600-61379200	Enhancers	NHDF-Ad	bronchial
8	chr5:61377600-61379400	Enhancers	HSMM	muscle
9	chr5:61377600-61379400	Enhancers	Osteobl	bone
10	chr5:61377800-61379200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:61378000-61379200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:61378000-61379400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:61378000-61379400	Enhancers	NHLF	lung
14	chr5:61378200-61379400	Enhancers	NH-A	brain
15	chr5:61378600-61379800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:61378800-61379400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:61378800-61380400	Enhancers	NHEK	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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