Variant report

Variant	rs72830385
Chromosome Location	chr2:115503836-115503837
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17043547	1.00[EUR][1000 genomes]
rs59873976	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61273778	1.00[EUR][1000 genomes]
rs72826512	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72826514	1.00[EUR][1000 genomes]
rs72826516	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72826517	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72826518	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72826519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72826525	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72826527	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72826537	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830357	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830359	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830360	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830362	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830363	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830364	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830365	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830367	0.89[EUR][1000 genomes]
rs72830371	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830373	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830374	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830376	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830388	1.00[EUR][1000 genomes]
rs72830391	0.89[EUR][1000 genomes]
rs72830402	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv431524	chr2:115425650-115530770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv582715	chr2:115495142-115573499	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv459019	chr2:115495142-115599013	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115503200-115504000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:115503200-115504000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:115503200-115504200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:115503400-115504000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:115503400-115504000	Enhancers	Brain Cingulate Gyrus	brain
6	chr2:115503600-115504000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:115503600-115504000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links