Variant report

Variant	rs1820888
Chromosome Location	chr4:74738456-74738457
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16850125	1.00[AMR][1000 genomes]
rs187093	0.83[AMR][1000 genomes]
rs2668075	0.83[AMR][1000 genomes]
rs2668077	0.83[AMR][1000 genomes]
rs352030	0.83[AMR][1000 genomes]
rs353030	0.83[AMR][1000 genomes]
rs353035	0.83[AMR][1000 genomes]
rs353037	0.83[AMR][1000 genomes]
rs375890	0.83[AMR][1000 genomes]
rs471520	0.83[AMR][1000 genomes]
rs506627	0.83[AMR][1000 genomes]
rs554409	0.83[AMR][1000 genomes]
rs599296	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855209	0.83[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74733600-74738800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74736000-74741600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:74736400-74739800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:74736800-74740600	Weak transcription	NHDF-Ad	bronchial
5	chr4:74736800-74749000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:74737000-74739200	Enhancers	HUVEC	blood vessel
7	chr4:74737000-74740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:74737000-74740800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:74737000-74741600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:74737200-74739600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:74737400-74739800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:74737800-74741000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:74738000-74741600	Weak transcription	Fetal Stomach	stomach
14	chr4:74738200-74739200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:74738200-74739200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr4:74738400-74739000	Enhancers	Adipose Nuclei	Adipose
17	chr4:74738400-74739200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:74738400-74740800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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