Variant report

Variant	rs62513280
Chromosome Location	chr8:39894628-39894629
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10958586	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10958587	0.82[ASN][1000 genomes]
rs10958589	0.82[ASN][1000 genomes]
rs2929117	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2981163	0.83[ASN][1000 genomes]
rs3892719	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4321987	0.83[ASN][1000 genomes]
rs4392882	0.80[ASN][1000 genomes]
rs4428659	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4503083	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57313326	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62511408	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62511443	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62513281	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513282	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513283	0.99[ASN][1000 genomes]
rs6991166	0.82[ASN][1000 genomes]
rs7004652	0.83[ASN][1000 genomes]
rs7018120	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39891400-39895400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:39891400-39896800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:39891400-39898400	Weak transcription	Pancreas	Pancrea
4	chr8:39892600-39895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:39892600-39895200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:39892600-39896800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:39892600-39896800	Weak transcription	Fetal Lung	lung
8	chr8:39892600-39897800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:39892600-39898200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:39893600-39895200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:39893600-39895200	Weak transcription	A549	lung
12	chr8:39893600-39898400	Weak transcription	Liver	Liver
13	chr8:39893600-39898400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:39893800-39895000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:39893800-39897600	Weak transcription	HepG2	liver
16	chr8:39894200-39897800	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:39894400-39897800	Weak transcription	Hela-S3	cervix

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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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