Variant report

Variant	rs2385181
Chromosome Location	chr19:37886330-37886331
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1019494	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10419281	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10421436	0.85[EUR][1000 genomes]
rs10425719	0.92[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs11083420	0.85[ASN][1000 genomes]
rs11083423	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11666708	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12462487	0.85[ASN][1000 genomes]
rs12462546	0.81[ASN][1000 genomes]
rs12462708	0.82[ASN][1000 genomes]
rs12981359	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12981830	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1545755	0.96[CEU][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs185368	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs185369	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1968251	1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291001	0.82[ASW][hapmap]
rs2306201	0.82[ASW][hapmap]
rs2385180	0.82[ASW][hapmap];1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2431992	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs256733	0.82[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs256735	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256740	0.94[ASN][1000 genomes]
rs256744	0.94[ASN][1000 genomes]
rs320881	0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap]
rs34410821	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35470250	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4344867	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs502546	0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs55755939	0.91[ASN][1000 genomes]
rs55926714	0.83[ASN][1000 genomes]
rs6508721	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6508725	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7247090	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7254009	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73025481	0.89[ASN][1000 genomes]
rs8109103	0.82[ASW][hapmap];0.96[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs862234	1.00[ASW][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058788	chr19:37857748-37899157	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv579465	chr19:37868552-37917692	ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs2385181	EIF3K	cis	parietal	SCAN
rs2385181	DMPK	cis	parietal	SCAN
rs2385181	CBLC	cis	parietal	SCAN
rs2385181	PLEKHG2	cis	cerebellum	SCAN
rs2385181	ZNF226	cis	cerebellum	SCAN
rs2385181	AC012309.5	cis	Thyroid	GTEx
rs2385181	HIPK4	cis	parietal	SCAN
rs2385181	PHLDB3	cis	cerebellum	SCAN
rs2385181	IL29	cis	parietal	SCAN
rs2385181	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs2385181	AC012309.5	cis	Heart Left Ventricle	GTEx
rs2385181	AKT2	cis	parietal	SCAN
rs2385181	AC012309.5	cis	Esophagus Muscularis	GTEx
rs2385181	APOC4	cis	cerebellum	SCAN
rs2385181	AC012309.5	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37864600-37890600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37868000-37886600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:37883600-37886600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37884600-37896800	ZNF genes & repeats	Liver	Liver
5	chr19:37885600-37889200	Weak transcription	Pancreas	Pancrea
6	chr19:37886200-37886800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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