Variant report

Variant	rs531283
Chromosome Location	chr19:21464322-21464323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF738-5	chr19:21464307-21464412	ucscGeneNc_uc002nqb_2

Extended variants
information (count: 54 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1678822	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1762580	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs279813	0.82[EUR][1000 genomes]
rs2914636	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2914637	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2928210	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs483383	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs488125	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs501647	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs504280	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs508888	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs509540	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs514390	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs549882	0.84[EUR][1000 genomes]
rs552039	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs565406	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs566230	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57055133	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59617671	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs597166	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs600428	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs608002	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs617186	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs617189	0.93[ASN][1000 genomes]
rs619867	0.91[ASN][1000 genomes]
rs620804	0.93[ASN][1000 genomes]
rs62107470	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62109224	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs635730	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs653494	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs656523	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs657879	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs661393	0.93[ASN][1000 genomes]
rs670813	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs685844	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7245848	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7248700	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73025767	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8099863	0.81[EUR][1000 genomes]
rs8103417	0.82[EUR][1000 genomes]
rs8110470	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8111189	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8113738	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv578950	chr19:21388995-21477431	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv911415	chr19:21388995-21487170	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911419	chr19:21391844-21487170	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	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
11	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs531283	ZNF738	cis	Adipose Subcutaneous	GTEx
rs531283	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs531283	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs531283	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs531283	ZNF738	cis	Thyroid	GTEx
rs531283	ZNF738	cis	Nerve Tibial	GTEx
rs531283	ZNF738	cis	Artery Tibial	GTEx
rs531283	CTD-2561J22.5	cis	Thyroid	GTEx
rs531283	ZNF738	cis	Esophagus Muscularis	GTEx

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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