Variant report

Variant	rs73342931
Chromosome Location	chr5:126540093-126540094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs56676434	1.00[AMR][1000 genomes]
rs56765813	1.00[AMR][1000 genomes]
rs59296009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60564596	1.00[AMR][1000 genomes]
rs6868192	0.83[AMR][1000 genomes]
rs6868511	0.83[AMR][1000 genomes]
rs6868955	0.83[AMR][1000 genomes]
rs73337289	0.83[AMR][1000 genomes]
rs73337292	0.83[AMR][1000 genomes]
rs73337293	0.83[AMR][1000 genomes]
rs73337295	0.83[AMR][1000 genomes]
rs73339203	0.83[AMR][1000 genomes]
rs73339207	0.83[AMR][1000 genomes]
rs73339210	0.83[AMR][1000 genomes]
rs73339218	0.83[AMR][1000 genomes]
rs73339225	0.83[AMR][1000 genomes]
rs73339241	0.83[AMR][1000 genomes]
rs73339244	0.83[AMR][1000 genomes]
rs73339298	1.00[AMR][1000 genomes]
rs73339301	1.00[AMR][1000 genomes]
rs73341206	1.00[AMR][1000 genomes]
rs73341218	1.00[AMR][1000 genomes]
rs73342910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342912	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342940	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7709283	0.83[AMR][1000 genomes]
rs7722202	0.83[AMR][1000 genomes]
rs7722206	0.83[AMR][1000 genomes]
rs7729101	0.83[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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126539000-126540200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:126539200-126542200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:126539400-126540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:126539400-126540200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:126539400-126540200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:126539400-126540200	Enhancers	HMEC	breast
7	chr5:126539400-126540200	Bivalent Enhancer	NHDF-Ad	bronchial
8	chr5:126539400-126540200	Enhancers	NHEK	skin
9	chr5:126539400-126540200	Enhancers	Osteobl	bone
10	chr5:126539400-126540400	Enhancers	HSMM	muscle
11	chr5:126539800-126543000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:126540000-126540400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:126540000-126541200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:126540000-126542800	Enhancers	NH-A	brain

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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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