Variant report

Variant	rs28733090
Chromosome Location	chr18:8992031-8992032
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4797346	0.88[ASN][1000 genomes]
rs4798739	0.85[ASN][1000 genomes]
rs4798740	0.84[ASN][1000 genomes]
rs57259999	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8092501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr18:8986800-8992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:8988200-8994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8990000-8992200	Enhancers	NHDF-Ad	bronchial
4	chr18:8990600-8998800	Weak transcription	A549	lung
5	chr18:8990800-8994800	Weak transcription	HMEC	breast
6	chr18:8991200-8992400	Weak transcription	K562	blood
7	chr18:8991400-8996600	Weak transcription	Liver	Liver
8	chr18:8991400-8998400	Weak transcription	Colon Smooth Muscle	Colon
9	chr18:8991400-8998600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:8991600-8996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:8991600-8996200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:8991600-8998600	Weak transcription	NH-A	brain
13	chr18:8991800-8996000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:8991800-8996400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:8991800-8998600	Weak transcription	NHLF	lung

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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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