Variant report

Variant	rs62370952
Chromosome Location	chr5:42835735-42835736
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1035516	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1046068	0.86[EUR][1000 genomes]
rs10462041	0.94[EUR][1000 genomes]
rs1074263	0.87[ASN][1000 genomes]
rs10941587	0.95[EUR][1000 genomes]
rs10941591	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10941592	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941593	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952526	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12054838	0.90[EUR][1000 genomes]
rs12055087	0.84[EUR][1000 genomes]
rs12055266	0.95[EUR][1000 genomes]
rs12516157	0.84[EUR][1000 genomes]
rs12516954	0.92[EUR][1000 genomes]
rs12517008	0.90[ASN][1000 genomes]
rs12517112	0.85[EUR][1000 genomes]
rs12518414	0.89[EUR][1000 genomes]
rs12519443	0.97[EUR][1000 genomes]
rs12519532	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12521615	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522458	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13167366	0.88[ASN][1000 genomes]
rs13178745	0.97[EUR][1000 genomes]
rs1345824	0.85[ASN][1000 genomes]
rs1345825	0.86[ASN][1000 genomes]
rs1364024	0.88[EUR][1000 genomes]
rs1364026	0.84[EUR][1000 genomes]
rs1364027	0.94[EUR][1000 genomes]
rs1423653	0.87[ASN][1000 genomes]
rs1423654	0.84[EUR][1000 genomes]
rs1423656	0.81[ASN][1000 genomes]
rs1593070	0.84[EUR][1000 genomes]
rs1593071	0.87[ASN][1000 genomes]
rs1862628	0.83[ASN][1000 genomes]
rs1862629	0.88[ASN][1000 genomes]
rs1895457	0.87[ASN][1000 genomes]
rs2014958	0.87[ASN][1000 genomes]
rs2113086	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2113088	0.86[ASN][1000 genomes]
rs2161600	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs230807	0.87[ASN][1000 genomes]
rs230812	0.88[ASN][1000 genomes]
rs230813	0.88[ASN][1000 genomes]
rs230814	0.87[ASN][1000 genomes]
rs230816	0.87[ASN][1000 genomes]
rs230819	0.88[ASN][1000 genomes]
rs230820	0.87[ASN][1000 genomes]
rs2459629	0.87[ASN][1000 genomes]
rs28919269	0.86[EUR][1000 genomes]
rs28919892	0.84[EUR][1000 genomes]
rs28919916	0.86[EUR][1000 genomes]
rs2910851	0.87[ASN][1000 genomes]
rs2910855	0.87[ASN][1000 genomes]
rs2910856	0.87[ASN][1000 genomes]
rs2910862	0.87[ASN][1000 genomes]
rs2910864	0.87[ASN][1000 genomes]
rs2910871	0.86[ASN][1000 genomes]
rs2910880	0.89[ASN][1000 genomes]
rs2910881	0.85[ASN][1000 genomes]
rs2972756	0.89[ASN][1000 genomes]
rs2972757	0.88[ASN][1000 genomes]
rs2972758	0.86[ASN][1000 genomes]
rs2972759	0.88[ASN][1000 genomes]
rs2972761	0.89[ASN][1000 genomes]
rs2972763	0.88[ASN][1000 genomes]
rs2972767	0.87[ASN][1000 genomes]
rs2972783	0.87[ASN][1000 genomes]
rs2972998	0.87[ASN][1000 genomes]
rs2972999	0.87[ASN][1000 genomes]
rs2973000	0.87[ASN][1000 genomes]
rs2973001	0.87[ASN][1000 genomes]
rs2973006	0.87[ASN][1000 genomes]
rs2973011	0.87[ASN][1000 genomes]
rs2973018	0.85[ASN][1000 genomes]
rs2973023	0.85[ASN][1000 genomes]
rs2973028	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2973029	0.87[ASN][1000 genomes]
rs34443829	0.97[ASN][1000 genomes]
rs34926728	0.96[ASN][1000 genomes]
rs35293842	0.90[ASN][1000 genomes]
rs3797310	0.83[EUR][1000 genomes]
rs3797311	0.83[EUR][1000 genomes]
rs3866438	0.84[EUR][1000 genomes]
rs3870358	0.84[EUR][1000 genomes]
rs3870359	0.84[EUR][1000 genomes]
rs3906418	0.95[EUR][1000 genomes]
rs4143864	0.86[EUR][1000 genomes]
rs4866798	0.84[EUR][1000 genomes]
rs4866799	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4866800	0.90[ASN][1000 genomes]
rs4866801	0.91[ASN][1000 genomes]
rs4866802	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866958	0.84[EUR][1000 genomes]
rs4866959	0.84[EUR][1000 genomes]
rs4866961	0.95[EUR][1000 genomes]
rs4866962	0.84[EUR][1000 genomes]
rs4866963	0.84[EUR][1000 genomes]
rs4866966	0.97[EUR][1000 genomes]
rs4866967	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55651065	0.95[EUR][1000 genomes]
rs55660133	0.89[EUR][1000 genomes]
rs55687632	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55688895	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56273800	0.84[EUR][1000 genomes]
rs56394865	0.95[EUR][1000 genomes]
rs58429632	0.84[EUR][1000 genomes]
rs59184964	0.87[EUR][1000 genomes]
rs60008560	0.97[EUR][1000 genomes]
rs6180	0.82[ASN][1000 genomes]
rs62370911	0.84[EUR][1000 genomes]
rs62370912	0.82[EUR][1000 genomes]
rs62370950	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370951	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62370953	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62370955	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6865453	0.95[EUR][1000 genomes]
rs6882333	0.88[ASN][1000 genomes]
rs6899268	0.84[EUR][1000 genomes]
rs719756	0.85[ASN][1000 genomes]
rs7579	0.86[EUR][1000 genomes]
rs7708337	0.83[EUR][1000 genomes]
rs7725961	0.89[EUR][1000 genomes]
rs7734918	0.95[EUR][1000 genomes]
rs8180394	0.84[EUR][1000 genomes]
rs8180482	0.95[EUR][1000 genomes]
rs9637794	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised 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	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
7	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
8	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
9	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
12	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
13	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
14	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62370952	CCDC152	cis	Artery Aorta	GTEx
rs62370952	CCDC152	cis	Artery Tibial	GTEx
rs62370952	SEPP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42829800-42840600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:42834400-42839200	Weak transcription	Liver	Liver
3	chr5:42835200-42836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:42835600-42836200	Enhancers	HepG2	liver

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