Variant report

Variant	rs72830391
Chromosome Location	chr2:115519552-115519553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:115515913..115518082-chr2:115519516..115521359,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10184089	0.85[AMR][1000 genomes]
rs10187047	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10190737	0.85[AMR][1000 genomes]
rs11890570	0.85[AMR][1000 genomes]
rs17043547	0.89[EUR][1000 genomes]
rs59873976	0.89[EUR][1000 genomes]
rs61273778	0.89[EUR][1000 genomes]
rs72826512	0.89[EUR][1000 genomes]
rs72826514	0.89[EUR][1000 genomes]
rs72826516	0.89[EUR][1000 genomes]
rs72826517	0.89[EUR][1000 genomes]
rs72826518	0.89[EUR][1000 genomes]
rs72826519	0.89[EUR][1000 genomes]
rs72826525	0.89[EUR][1000 genomes]
rs72826527	0.89[EUR][1000 genomes]
rs72826537	0.89[EUR][1000 genomes]
rs72830357	0.89[EUR][1000 genomes]
rs72830359	0.89[EUR][1000 genomes]
rs72830360	0.89[EUR][1000 genomes]
rs72830362	0.89[EUR][1000 genomes]
rs72830363	0.89[EUR][1000 genomes]
rs72830364	0.89[EUR][1000 genomes]
rs72830365	0.89[EUR][1000 genomes]
rs72830371	0.89[EUR][1000 genomes]
rs72830373	0.89[EUR][1000 genomes]
rs72830374	0.89[EUR][1000 genomes]
rs72830376	0.89[EUR][1000 genomes]
rs72830377	0.89[EUR][1000 genomes]
rs72830385	0.89[EUR][1000 genomes]
rs72830388	0.89[EUR][1000 genomes]
rs72830393	0.82[EUR][1000 genomes]
rs72830394	0.82[EUR][1000 genomes]
rs72830395	0.82[EUR][1000 genomes]
rs72830402	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
6	nsv874907	chr2:115515053-115532766	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv874908	chr2:115515053-115535141	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv874909	chr2:115515053-115536791	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv874910	chr2:115515053-115543018	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv874911	chr2:115515053-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv874912	chr2:115516080-115536791	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv874913	chr2:115516080-115542869	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115513200-115520800	Weak transcription	Pancreas	Pancrea
2	chr2:115519000-115519800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:115519000-115520800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:115519200-115519800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr2:115519200-115520200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:115519200-115521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:115519400-115519600	Enhancers	Left Ventricle	heart
8	chr2:115519400-115520200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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