Variant report

Variant	rs7997835
Chromosome Location	chr13:29744307-29744308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1111374	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1318661	0.80[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1335660	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1887750	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1927831	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs1927834	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34590752	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4769684	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4769686	0.80[CEU][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4769688	0.82[TSI][hapmap]
rs4769692	0.80[CEU][hapmap]
rs4769693	0.86[CHD][hapmap];0.88[TSI][hapmap]
rs6490362	0.80[CEU][hapmap];0.86[CHD][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6490365	0.82[TSI][hapmap]
rs6490370	0.82[TSI][hapmap]
rs7331017	0.94[CEU][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7338024	0.80[CEU][hapmap]
rs7983586	0.80[CEU][hapmap];0.85[CHD][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7984848	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7985374	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7985618	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7986213	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7988808	0.80[CEU][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8001681	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9314937	0.83[CHD][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs932872	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9508305	0.87[EUR][1000 genomes]
rs9508306	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9508307	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9508308	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9508318	0.82[EUR][1000 genomes]
rs9550443	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9550445	0.80[CEU][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9551622	0.82[EUR][1000 genomes]
rs9579303	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533835	chr13:29141132-29962069	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3406145	chr13:29616606-29917459	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899957	chr13:29720732-29820422	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv455851	chr13:29728058-29746494	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv561391	chr13:29728058-29746494	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv427927	chr13:29729315-30062054	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7997835	ALOX5AP	cis	parietal	SCAN
rs7997835	ATP12A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29734400-29752600	Weak transcription	Aorta	Aorta
2	chr13:29743800-29745000	Enhancers	Fetal Lung	lung
3	chr13:29743800-29745000	Enhancers	Fetal Stomach	stomach
4	chr13:29744000-29744400	Enhancers	Fetal Kidney	kidney
5	chr13:29744000-29744800	Enhancers	Right Atrium	heart
6	chr13:29744200-29745000	Enhancers	Left Ventricle	heart
7	chr13:29744200-29745000	Enhancers	Right Ventricle	heart
8	chr13:29744200-29745600	Enhancers	Fetal Heart	heart

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