Variant report

Variant	rs4464919
Chromosome Location	chr7:56652213-56652214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11487201	1.00[ASN][1000 genomes]
rs11978242	0.80[EUR][1000 genomes]
rs11981923	0.80[EUR][1000 genomes]
rs11982672	0.80[EUR][1000 genomes]
rs11982992	0.80[EUR][1000 genomes]
rs11984288	0.80[EUR][1000 genomes]
rs12532097	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533231	1.00[ASN][1000 genomes]
rs12534871	1.00[ASN][1000 genomes]
rs12535550	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310169	0.80[EUR][1000 genomes]
rs1514103	0.80[EUR][1000 genomes]
rs1601913	0.80[EUR][1000 genomes]
rs1606624	0.80[EUR][1000 genomes]
rs1606625	0.80[EUR][1000 genomes]
rs1606626	0.80[EUR][1000 genomes]
rs1606627	0.80[EUR][1000 genomes]
rs1606629	0.80[EUR][1000 genomes]
rs17136282	0.80[EUR][1000 genomes]
rs17136284	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17153055	0.80[EUR][1000 genomes]
rs17172548	0.80[EUR][1000 genomes]
rs1825941	0.80[EUR][1000 genomes]
rs1825942	0.80[EUR][1000 genomes]
rs1825943	0.80[EUR][1000 genomes]
rs1844165	0.80[EUR][1000 genomes]
rs1849670	0.80[EUR][1000 genomes]
rs1949247	0.80[EUR][1000 genomes]
rs1949248	0.80[EUR][1000 genomes]
rs1949249	0.80[EUR][1000 genomes]
rs1949250	0.80[EUR][1000 genomes]
rs28668797	1.00[ASN][1000 genomes]
rs4095658	0.80[EUR][1000 genomes]
rs4323430	1.00[ASN][1000 genomes]
rs4338056	1.00[ASN][1000 genomes]
rs4545043	0.80[EUR][1000 genomes]
rs4948161	0.80[EUR][1000 genomes]
rs4948163	0.80[EUR][1000 genomes]
rs56887188	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57225644	1.00[ASN][1000 genomes]
rs60725536	1.00[ASN][1000 genomes]
rs60795762	0.90[EUR][1000 genomes]
rs66498929	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66560083	1.00[ASN][1000 genomes]
rs66785139	0.80[EUR][1000 genomes]
rs67090516	0.80[EUR][1000 genomes]
rs67192391	0.80[EUR][1000 genomes]
rs67421275	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67563578	1.00[ASN][1000 genomes]
rs67587774	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67635886	0.80[EUR][1000 genomes]
rs67666930	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67686086	1.00[ASN][1000 genomes]
rs67936971	1.00[ASN][1000 genomes]
rs67960993	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68161740	0.80[EUR][1000 genomes]
rs68174956	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68179256	0.80[EUR][1000 genomes]
rs6942963	1.00[ASN][1000 genomes]
rs73124617	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138216	1.00[ASN][1000 genomes]
rs73343697	0.80[EUR][1000 genomes]
rs7784299	1.00[ASN][1000 genomes]
rs7799034	0.80[EUR][1000 genomes]
rs7804588	0.80[EUR][1000 genomes]
rs7805333	0.80[EUR][1000 genomes]
rs7811082	0.80[EUR][1000 genomes]
rs9642417	0.80[EUR][1000 genomes]
rs9642614	0.80[EUR][1000 genomes]
rs9642615	0.80[EUR][1000 genomes]
rs9642617	0.80[EUR][1000 genomes]
rs9942610	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033163	chr7:56307057-56677865	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv538863	chr7:56307057-56677865	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv427783	chr7:56334626-56983646	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1016255	chr7:56453095-56835595	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv888066	chr7:56466740-56693762	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1028678	chr7:56511649-56795206	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv538864	chr7:56511649-56795206	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1020833	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv538865	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
11	nsv8090	chr7:56511877-56772523	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1017561	chr7:56512618-57334136	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	nsv831009	chr7:56566629-56754313	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1030968	chr7:56610656-56835595	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv5758	chr7:56637221-56705333	ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv966799	chr7:56643764-56660276	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv508456	chr7:56644586-56664331	ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv436559	chr7:56651427-56659740	ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4464919	CHCHD2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56651200-56652400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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