Variant report

Variant	rs73247423
Chromosome Location	chr8:59109950-59109951
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12675674	1.00[EUR][1000 genomes]
rs12682314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16923375	1.00[EUR][1000 genomes]
rs73247432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1024575	chr8:59101248-59141010	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59103800-59110400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:59104400-59116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:59105000-59110000	Weak transcription	Fetal Stomach	stomach
4	chr8:59105200-59114800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:59108000-59110000	Enhancers	HMEC	breast
6	chr8:59108000-59110000	Enhancers	NHEK	skin
7	chr8:59108000-59110800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:59108000-59111000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:59108000-59111000	Enhancers	NHDF-Ad	bronchial
10	chr8:59108200-59110000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:59108200-59110000	Enhancers	Hela-S3	cervix
12	chr8:59109200-59110000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:59109400-59110000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:59109600-59110600	Weak transcription	NHLF	lung
15	chr8:59109800-59110000	Enhancers	H1 Derived Mesenchymal Stem 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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