Variant report

Variant	rs520340
Chromosome Location	chr19:39529546-39529547
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1268244	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1268246	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1268253	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs484348	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs494515	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs500268	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541465	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565581	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs579569	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs597561	1.00[ASN][1000 genomes]
rs602031	0.80[AMR][1000 genomes]
rs632308	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs636534	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640669	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674440	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963126	chr19:39521120-39552490	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39523400-39535400	Weak transcription	Right Atrium	heart
2	chr19:39526800-39531400	Enhancers	Fetal Intestine Large	intestine
3	chr19:39528600-39530800	Enhancers	Fetal Intestine Small	intestine

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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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