Variant report

Variant	rs471520
Chromosome Location	chr4:74769632-74769633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1511814	0.85[AMR][1000 genomes]
rs16850125	0.83[AMR][1000 genomes]
rs181297	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1814092	0.85[AMR][1000 genomes]
rs1820888	0.83[AMR][1000 genomes]
rs1835263	0.85[AMR][1000 genomes]
rs2018732	0.85[AMR][1000 genomes]
rs2668075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097408	0.85[AMR][1000 genomes]
rs353030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs353033	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs353035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs353037	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs480175	0.85[AMR][1000 genomes]
rs506627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs509958	0.85[AMR][1000 genomes]
rs548869	0.85[AMR][1000 genomes]
rs554409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565886	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs587895	0.85[AMR][1000 genomes]
rs592797	0.85[AMR][1000 genomes]
rs599296	0.83[AMR][1000 genomes]
rs72855209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs930113	0.85[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74757200-74770400	Enhancers	NHDF-Ad	bronchial
2	chr4:74759800-74770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:74767200-74770000	Weak transcription	K562	blood
4	chr4:74767200-74770000	Weak transcription	NHLF	lung
5	chr4:74768200-74770200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:74768400-74772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:74768600-74770000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:74768800-74770200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:74768800-74781600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:74768800-74782200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:74769400-74770400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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

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