Variant report

Variant	rs28730308
Chromosome Location	chr4:55901688-55901689
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10034873	1.00[EUR][1000 genomes]
rs10212910	1.00[EUR][1000 genomes]
rs17085320	1.00[EUR][1000 genomes]
rs17085340	1.00[EUR][1000 genomes]
rs17085382	1.00[EUR][1000 genomes]
rs17085431	1.00[EUR][1000 genomes]
rs28431274	1.00[EUR][1000 genomes]
rs28534637	1.00[EUR][1000 genomes]
rs28579065	1.00[EUR][1000 genomes]
rs28585443	1.00[EUR][1000 genomes]
rs28627586	0.88[AFR][1000 genomes]
rs28664865	1.00[EUR][1000 genomes]
rs41520946	1.00[EUR][1000 genomes]
rs57190330	1.00[EUR][1000 genomes]
rs58047235	1.00[EUR][1000 genomes]
rs6830995	1.00[EUR][1000 genomes]
rs6835587	1.00[EUR][1000 genomes]
rs6836091	1.00[EUR][1000 genomes]
rs6843015	1.00[EUR][1000 genomes]
rs7693155	1.00[EUR][1000 genomes]
rs9312659	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv524342	chr4:55891531-55921535	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55895800-55904600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:55896400-55904400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:55896800-55905000	Enhancers	HMEC	breast
4	chr4:55898000-55902400	Weak transcription	NHEK	skin
5	chr4:55898200-55902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:55899200-55902600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:55899600-55904600	Weak transcription	Right Ventricle	heart
8	chr4:55900400-55902600	Weak transcription	Left Ventricle	heart
9	chr4:55900400-55902800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:55900400-55904800	Weak transcription	Right Atrium	heart
11	chr4:55900600-55903600	Weak transcription	Fetal Lung	lung
12	chr4:55900800-55902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:55901400-55902200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:55901600-55903600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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