Variant report

Variant	rs73280806
Chromosome Location	chr8:102869958-102869959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11992131	0.81[EUR][1000 genomes]
rs11998728	0.81[EUR][1000 genomes]
rs16868515	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16868516	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61460942	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61534404	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73277026	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73277033	0.83[ASN][1000 genomes]
rs73280809	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv518162	chr8:102841031-102893626	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv523850	chr8:102841031-102893626	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1030076	chr8:102866179-102896458	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	5 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	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102862800-102876000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:102866600-102870600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:102866600-102876000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:102866800-102870600	Weak transcription	Psoas Muscle	Psoas
6	chr8:102867400-102872400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:102867600-102872400	Weak transcription	NHDF-Ad	bronchial
8	chr8:102868200-102871000	Enhancers	Fetal Muscle Leg	muscle
9	chr8:102868600-102870000	Enhancers	Ovary	ovary
10	chr8:102869000-102870000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:102869200-102871000	Enhancers	GM12878-XiMat	blood
12	chr8:102869200-102880200	Weak transcription	Aorta	Aorta
13	chr8:102869400-102870200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:102869600-102870000	Enhancers	Adipose Nuclei	Adipose
15	chr8:102869600-102870000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr8:102869600-102870000	Enhancers	Fetal Lung	lung
17	chr8:102869800-102871200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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