Variant report

Variant	rs56717658
Chromosome Location	chr19:37608572-37608573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1234287	0.95[ASN][1000 genomes]
rs12459805	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12459844	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12460043	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12460087	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12460098	0.95[ASN][1000 genomes]
rs12460285	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12460291	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12460498	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12460556	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12460557	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12460577	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12460798	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12460800	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12460802	0.95[ASN][1000 genomes]
rs12460821	0.95[ASN][1000 genomes]
rs12461119	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12461358	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12461446	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12461501	0.95[ASN][1000 genomes]
rs12461563	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12461933	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12462186	0.87[ASN][1000 genomes]
rs12462205	0.95[ASN][1000 genomes]
rs12462276	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12462623	0.95[ASN][1000 genomes]
rs12462629	0.95[ASN][1000 genomes]
rs12463101	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12463103	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12463125	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12463280	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12463328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1521096	0.95[ASN][1000 genomes]
rs1521097	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1521098	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1521099	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17239026	0.95[ASN][1000 genomes]
rs17304758	0.95[ASN][1000 genomes]
rs3213840	0.95[ASN][1000 genomes]
rs34191527	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34994400	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35314047	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35374722	0.95[ASN][1000 genomes]
rs35692141	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs36023046	0.95[ASN][1000 genomes]
rs4358055	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56745069	0.88[AFR][1000 genomes]
rs57057279	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57080651	0.88[AFR][1000 genomes]
rs57231148	0.88[AFR][1000 genomes]
rs57505463	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58017177	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58378903	0.88[AFR][1000 genomes]
rs58409556	0.88[AFR][1000 genomes]
rs58948692	0.88[AFR][1000 genomes]
rs59043209	0.88[AFR][1000 genomes]
rs59044151	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59055784	0.88[AFR][1000 genomes]
rs59397049	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59447056	0.88[AFR][1000 genomes]
rs60096362	0.88[AFR][1000 genomes]
rs60418129	0.88[AFR][1000 genomes]
rs60479919	0.87[ASN][1000 genomes]
rs60561021	0.88[AFR][1000 genomes]
rs60765291	0.88[AFR][1000 genomes]
rs61056688	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs61166122	0.88[AFR][1000 genomes]
rs61354972	0.88[AFR][1000 genomes]
rs61371510	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73618072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618081	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73618082	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73618086	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73618088	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73618094	0.89[AMR][1000 genomes]
rs73618098	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73618496	0.88[AFR][1000 genomes]
rs73620004	0.88[AFR][1000 genomes]
rs73620013	0.88[AFR][1000 genomes]
rs73620807	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73620810	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73620811	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73620813	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73620816	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73620836	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620839	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620840	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620843	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620852	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620854	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620860	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73620862	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620866	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620870	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73621760	0.88[AFR][1000 genomes]
rs73623522	0.88[AFR][1000 genomes]
rs73623524	0.88[AFR][1000 genomes]
rs73623526	0.88[AFR][1000 genomes]
rs73623563	0.88[AFR][1000 genomes]
rs73623564	0.88[AFR][1000 genomes]
rs73623569	0.88[AFR][1000 genomes]
rs73624813	0.87[ASN][1000 genomes]
rs73625205	0.88[AFR][1000 genomes]
rs73625207	0.88[AFR][1000 genomes]
rs73625229	0.88[AFR][1000 genomes]
rs73625231	0.88[AFR][1000 genomes]
rs73625236	0.88[AFR][1000 genomes]
rs73625241	0.88[AFR][1000 genomes]
rs73625242	0.88[AFR][1000 genomes]
rs73625243	0.88[AFR][1000 genomes]
rs73625257	0.88[AFR][1000 genomes]
rs73625272	0.95[ASN][1000 genomes]
rs73625289	0.88[AFR][1000 genomes]
rs73626558	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73626564	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73626571	0.88[AFR][1000 genomes]
rs73626582	0.88[AFR][1000 genomes]
rs73626588	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73626597	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73626600	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8113719	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37597200-37608600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:37597200-37608800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:37599200-37618000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:37606800-37609800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:37608000-37608600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr19:37608000-37608800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:37608000-37608800	Weak transcription	Right Ventricle	heart
8	chr19:37608000-37609800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr19:37608000-37610400	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:37608000-37613600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:37608000-37613600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr19:37608200-37613400	Weak transcription	Brain Germinal Matrix	brain
13	chr19:37608400-37613400	Weak transcription	Fetal Lung	lung
14	chr19:37608400-37613600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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