Variant report

Variant	rs72830402
Chromosome Location	chr2:115544140-115544141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13383177	0.83[AMR][1000 genomes]
rs17043547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59873976	1.00[EUR][1000 genomes]
rs61273778	1.00[EUR][1000 genomes]
rs72826512	1.00[EUR][1000 genomes]
rs72826514	1.00[EUR][1000 genomes]
rs72826516	1.00[EUR][1000 genomes]
rs72826517	1.00[EUR][1000 genomes]
rs72826518	1.00[EUR][1000 genomes]
rs72826519	1.00[EUR][1000 genomes]
rs72826525	1.00[EUR][1000 genomes]
rs72826527	1.00[EUR][1000 genomes]
rs72826537	1.00[EUR][1000 genomes]
rs72830357	1.00[EUR][1000 genomes]
rs72830359	1.00[EUR][1000 genomes]
rs72830360	1.00[EUR][1000 genomes]
rs72830362	1.00[EUR][1000 genomes]
rs72830363	1.00[EUR][1000 genomes]
rs72830364	1.00[EUR][1000 genomes]
rs72830365	1.00[EUR][1000 genomes]
rs72830367	0.89[EUR][1000 genomes]
rs72830371	1.00[EUR][1000 genomes]
rs72830373	1.00[EUR][1000 genomes]
rs72830374	1.00[EUR][1000 genomes]
rs72830376	1.00[EUR][1000 genomes]
rs72830377	1.00[EUR][1000 genomes]
rs72830385	1.00[EUR][1000 genomes]
rs72830388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830391	0.89[EUR][1000 genomes]
rs72830393	1.00[AMR][1000 genomes]
rs72830394	1.00[AMR][1000 genomes]
rs72830395	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv582715	chr2:115495142-115573499	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	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
5	nsv874911	chr2:115515053-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv874915	chr2:115520205-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1001709	chr2:115530458-115546549	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
8	nsv1001980	chr2:115539567-115551331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115539800-115545000	Weak transcription	Brain Substantia Nigra	brain
2	chr2:115539800-115547000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:115541600-115546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:115542000-115546600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:115543200-115544800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:115543200-115546800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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