Variant report

Variant	rs4452769
Chromosome Location	chr8:130708333-130708334
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4994386	1.00[JPT][hapmap];0.84[ASN][1000 genomes]

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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1018106	chr8:130697368-130708333	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	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	chr8:130701600-130708400	Weak transcription	Spleen	Spleen
2	chr8:130703800-130709600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130705000-130708800	Weak transcription	Osteobl	bone
4	chr8:130705000-130709400	Weak transcription	NHEK	skin
5	chr8:130705000-130709600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:130705200-130709600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:130705400-130709800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:130705600-130710000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:130705800-130709800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:130705800-130709800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:130705800-130713600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:130707200-130713200	Weak transcription	Fetal Lung	lung
13	chr8:130707800-130708400	Weak transcription	A549	lung
14	chr8:130708200-130708400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:130708200-130708800	Flanking Active TSS	K562	blood
16	chr8:130708200-130709800	Enhancers	Dnd41	blood
17	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus

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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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