Variant report

Variant	rs6511250
Chromosome Location	chr19:21656046-21656047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10420016	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12974758	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1879234	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2173727	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2359155	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2562398	0.86[EUR][1000 genomes]
rs2562408	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2562417	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2562428	0.87[ASN][1000 genomes]
rs2562456	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2562466	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2562468	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2562471	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2562474	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2562487	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2562507	0.86[EUR][1000 genomes]
rs2562508	0.86[EUR][1000 genomes]
rs2650773	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2650784	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2650792	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650793	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2650801	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650804	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2650805	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2650814	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2650819	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2650825	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2681377	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2681388	0.86[EUR][1000 genomes]
rs2681389	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2681392	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2914646	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2946790	0.86[EUR][1000 genomes]
rs2968076	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2968078	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35008138	0.86[EUR][1000 genomes]
rs4524067	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56072098	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62110163	0.86[EUR][1000 genomes]
rs6511253	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6511254	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6511256	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6511258	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7252585	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8106025	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9304986	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304987	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv961284	chr19:21636687-21659271	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6511250	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs6511250	ZNF708	cis	lung	GTEx
rs6511250	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs6511250	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs6511250	CTD-2561J22.5	cis	Thyroid	GTEx
rs6511250	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs6511250	ZNF708	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21647000-21657200	Weak transcription	Right Atrium	heart
2	chr19:21653800-21657200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:21654000-21657600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:21655600-21657000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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