Variant report

Variant	rs7989422
Chromosome Location	chr13:51318575-51318576
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11841196	1.00[CHB][hapmap]
rs1323887	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17074908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074927	1.00[EUR][1000 genomes]
rs17350448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476619	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2476624	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2497094	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73492049	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495626	1.00[EUR][1000 genomes]
rs74081116	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74081118	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7984960	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990412	1.00[EUR][1000 genomes]
rs7990423	1.00[ASN][1000 genomes]
rs7996529	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591350	1.00[ASN][1000 genomes]
rs9596342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv437786	chr13:51318575-51331550	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51315600-51330400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:51317400-51319800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:51318000-51318600	Enhancers	HepG2	liver
4	chr13:51318200-51319200	Enhancers	Fetal Intestine Large	intestine
5	chr13:51318400-51319800	Weak transcription	Dnd41	blood

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