Variant report

Variant	rs28639814
Chromosome Location	chr4:74988183-74988184
allele	C/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:7)

rs_ID	r²[population]
rs10032162	1.00[AFR][1000 genomes]
rs10032694	1.00[AFR][1000 genomes]
rs28513957	0.83[AFR][1000 genomes]
rs28576753	1.00[AFR][1000 genomes]
rs28655443	1.00[AFR][1000 genomes]
rs28730399	1.00[AFR][1000 genomes]
rs9991321	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr4:74980600-74988800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:74983600-74988200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:74983600-74988200	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:74983600-74988400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:74983600-74988400	Weak transcription	NHDF-Ad	bronchial
6	chr4:74983600-74988400	Weak transcription	Osteobl	bone
7	chr4:74983600-74988600	Weak transcription	Adipose Nuclei	Adipose
8	chr4:74983800-74988200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:74984600-74988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:74984800-74988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:74985800-74988400	Strong transcription	NHEK	skin
12	chr4:74986600-74988200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:74987000-74988800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:74987200-74994000	Weak transcription	Thymus	Thymus
15	chr4:74987600-74988200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:74987800-74988600	Flanking Active TSS	Liver	Liver
17	chr4:74988000-74989400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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