Variant report

Variant	rs2288779
Chromosome Location	chr5:147647472-147647473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:147647009-147648791	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SPINK13	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10036018	1.00[EUR][1000 genomes]
rs10036463	1.00[EUR][1000 genomes]
rs10038033	1.00[EUR][1000 genomes]
rs10038266	1.00[EUR][1000 genomes]
rs10042118	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10044155	1.00[EUR][1000 genomes]
rs10053544	1.00[EUR][1000 genomes]
rs10056490	1.00[EUR][1000 genomes]
rs10056793	1.00[EUR][1000 genomes]
rs10060456	1.00[EUR][1000 genomes]
rs10062167	1.00[EUR][1000 genomes]
rs10063154	1.00[EUR][1000 genomes]
rs10067605	1.00[EUR][1000 genomes]
rs10074211	1.00[EUR][1000 genomes]
rs10075715	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10076759	1.00[EUR][1000 genomes]
rs10077951	1.00[EUR][1000 genomes]
rs10079907	1.00[EUR][1000 genomes]
rs10477362	1.00[EUR][1000 genomes]
rs10515604	1.00[EUR][1000 genomes]
rs12109558	1.00[EUR][1000 genomes]
rs12659499	1.00[EUR][1000 genomes]
rs13355381	1.00[EUR][1000 genomes]
rs13355813	1.00[EUR][1000 genomes]
rs13362082	1.00[EUR][1000 genomes]
rs1549884	0.82[ASN][1000 genomes]
rs17107730	1.00[EUR][1000 genomes]
rs17107741	1.00[EUR][1000 genomes]
rs1835913	1.00[EUR][1000 genomes]
rs1835914	1.00[EUR][1000 genomes]
rs2400501	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28408445	1.00[EUR][1000 genomes]
rs56306866	1.00[EUR][1000 genomes]
rs58888156	1.00[EUR][1000 genomes]
rs59746579	1.00[EUR][1000 genomes]
rs61618834	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580540	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580541	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6868404	1.00[EUR][1000 genomes]
rs6871631	1.00[EUR][1000 genomes]
rs6875394	1.00[EUR][1000 genomes]
rs6878503	1.00[EUR][1000 genomes]
rs6879119	1.00[EUR][1000 genomes]
rs6879289	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6881998	1.00[EUR][1000 genomes]
rs6891158	1.00[EUR][1000 genomes]
rs6897251	1.00[EUR][1000 genomes]
rs6898139	1.00[EUR][1000 genomes]
rs73266460	1.00[EUR][1000 genomes]
rs73271118	1.00[EUR][1000 genomes]
rs73276475	1.00[EUR][1000 genomes]
rs73278528	1.00[EUR][1000 genomes]
rs73278535	1.00[EUR][1000 genomes]
rs73795067	1.00[EUR][1000 genomes]
rs73795069	1.00[EUR][1000 genomes]
rs7708548	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7709265	1.00[EUR][1000 genomes]
rs9325099	1.00[EUR][1000 genomes]
rs9325100	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv883016	chr5:147640718-147689700	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv883017	chr5:147640718-147689700	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883018	chr5:147640718-147691470	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147618800-147647600	Weak transcription	Hela-S3	cervix
2	chr5:147635000-147647800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:147647400-147648200	Enhancers	Stomach Mucosa	stomach
4	chr5:147647400-147650600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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