Variant report

Variant	rs1701083
Chromosome Location	chr12:44417904-44417905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10880616	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10880617	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10880618	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1098878	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11182382	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11182384	1.00[JPT][hapmap]
rs11182385	1.00[JPT][hapmap]
rs11182396	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11182402	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182405	1.00[JPT][hapmap]
rs12099769	1.00[JPT][hapmap]
rs12296857	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12301507	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12322164	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1565620	1.00[JPT][hapmap]
rs1688723	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17094013	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1976211	1.00[JPT][hapmap]
rs2407788	0.82[MKK][hapmap]
rs3929354	1.00[JPT][hapmap]
rs6582494	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6582495	1.00[CHB][hapmap]
rs6582496	0.98[EUR][1000 genomes]
rs7959226	1.00[JPT][hapmap]
rs7980005	1.00[JPT][hapmap]
rs842193	0.98[EUR][1000 genomes]
rs842194	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs842195	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs842199	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs842202	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs859699	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs863580	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9919676	1.00[JPT][hapmap]
rs9919742	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1701083	CPNE8	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44404000-44422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44404200-44422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44415800-44418200	Weak transcription	Fetal Brain Male	brain
6	chr12:44417000-44422600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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