Variant report

Variant	rs1424648
Chromosome Location	chr2:57370068-57370069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11125691	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12713330	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1364527	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1424623	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424635	0.94[ASN][1000 genomes]
rs1424640	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1429311	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1559558	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1593233	0.96[ASN][1000 genomes]
rs17048752	1.00[LWK][hapmap]
rs1991125	1.00[ASN][1000 genomes]
rs4524159	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6545623	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6545624	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6545636	1.00[ASN][1000 genomes]
rs6719700	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997255	chr2:57043023-57430709	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv457963	chr2:57060131-57397423	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv582061	chr2:57060131-57397423	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv470466	chr2:57062513-57397423	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv999898	chr2:57193127-57901238	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535729	chr2:57193127-57901238	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015047	chr2:57273988-57517387	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2757801	chr2:57284531-57488396	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759053	chr2:57284531-57488396	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv582064	chr2:57304613-57397237	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv874182	chr2:57304613-57483669	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1014374	chr2:57332673-57370801	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv874183	chr2:57345571-57506444	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1003388	chr2:57364534-57394902	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1006769	chr2:57369025-57471354	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1424648	VTCN1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57369800-57370400	Enhancers	Muscle Satellite Cultured Cells	--

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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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