Variant report

Variant	rs7716935
Chromosome Location	chr5:102904222-102904223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:102896859..102898436-chr5:102902168..102904581,2	MCF-7	breast:
2	chr5:102893524..102895707-chr5:102903466..102905218,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10057864	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10061242	0.81[AMR][1000 genomes]
rs10078744	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11737902	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11750858	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13157247	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28406419	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34672333	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35355522	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3797900	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6878912	0.81[AMR][1000 genomes]
rs6880267	0.81[AMR][1000 genomes]
rs71586376	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73190066	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7707836	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7723689	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7725090	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7730302	0.81[AMR][1000 genomes]
rs7734923	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9327885	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882523	chr5:102687151-103342745	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1031600	chr5:102728430-103013575	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1025561	chr5:102744280-103152495	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv537832	chr5:102744280-103152495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1025859	chr5:102744479-103710290	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv537833	chr5:102744479-103710290	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1017730	chr5:102887970-103013575	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537834	chr5:102887970-103013575	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1017683	chr5:102887970-103110722	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv537835	chr5:102887970-103110722	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7716935	NUDT12	cis	Skin Sun Exposed Lower leg	GTEx
rs7716935	NUDT12	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:102899000-102909400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:102899200-102904800	Weak transcription	Fetal Heart	heart
3	chr5:102902000-102904800	Weak transcription	Stomach Mucosa	stomach
4	chr5:102902400-102904800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:102902600-102904400	Weak transcription	Fetal Intestine Large	intestine
6	chr5:102904000-102905400	Enhancers	Pancreas	Pancrea
7	chr5:102904200-102904400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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