Variant report

Variant	rs28988588
Chromosome Location	chr7:99364260-99364261
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28988587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28988603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28988606	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28988608	0.91[AFR][1000 genomes]
rs34309648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331003	chr7:99337054-99386069	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3450108	chr7:99339737-99383419	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482109	chr7:99354604-99381808	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv970558	chr7:99358519-99389907	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99350800-99369800	Weak transcription	Pancreas	Pancrea
2	chr7:99355400-99365800	Strong transcription	Liver	Liver
3	chr7:99361400-99364400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:99361800-99365000	Weak transcription	Fetal Lung	lung
5	chr7:99363800-99364600	Enhancers	K562	blood
6	chr7:99363800-99365000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:99364000-99364400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:99364000-99364400	Flanking Active TSS	Hela-S3	cervix
9	chr7:99364000-99364600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:99364200-99364400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:99364200-99364400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:99364200-99364600	Enhancers	NHEK	skin

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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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