Variant report

Variant	rs4518219
Chromosome Location	chr4:47305032-47305033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11929757	1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs12503495	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13108343	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13114985	0.82[ASN][1000 genomes]
rs13129278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17461709	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.82[ASN][1000 genomes]
rs34282295	0.82[ASN][1000 genomes]
rs35276546	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4508859	1.00[JPT][hapmap]
rs55818428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73249609	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733873	0.81[GIH][hapmap]
rs9683412	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879004	chr4:47234200-47322190	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4518219	YIPF7	cis	parietal	SCAN
rs4518219	CORIN	cis	parietal	SCAN

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

No data

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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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