Variant report

Variant	rs73306716
Chromosome Location	chr5:124330692-124330693
allele	A/G
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]
rs10071979	1.00[AMR][1000 genomes]
rs1030952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11952059	1.00[EUR][1000 genomes]
rs11952095	1.00[EUR][1000 genomes]
rs11952120	1.00[EUR][1000 genomes]
rs11956205	1.00[EUR][1000 genomes]
rs1898911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4836148	1.00[EUR][1000 genomes]
rs6860106	1.00[AMR][1000 genomes]
rs73304772	1.00[AMR][1000 genomes]
rs73304777	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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124319600-124332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:124323400-124348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:124324000-124331200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:124326600-124342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:124329600-124331800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:124329600-124331800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:124330600-124332200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:124330600-124333800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:124330600-124334000	Enhancers	H9 Derived Neuron 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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