Variant report

Variant	rs73005514
Chromosome Location	chr3:143331321-143331322
allele	C/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:16)

rs_ID	r²[population]
rs11915855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11918424	1.00[AMR][1000 genomes]
rs16853853	1.00[AMR][1000 genomes]
rs16853882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2069163	1.00[AMR][1000 genomes]
rs60313442	1.00[AMR][1000 genomes]
rs72993308	1.00[AMR][1000 genomes]
rs73001739	1.00[AMR][1000 genomes]
rs73001745	1.00[AMR][1000 genomes]
rs73005545	1.00[AMR][1000 genomes]
rs73007413	1.00[AMR][1000 genomes]
rs73007443	1.00[AMR][1000 genomes]
rs73009492	1.00[AMR][1000 genomes]
rs7613014	1.00[AMR][1000 genomes]
rs7632471	1.00[AMR][1000 genomes]
rs7635214	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:143297600-143339000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:143300400-143336800	Weak transcription	Primary T cells from cord blood	blood
3	chr3:143318600-143332600	Weak transcription	Brain Substantia Nigra	brain
4	chr3:143324200-143340000	Weak transcription	Primary B cells from cord blood	blood
5	chr3:143324400-143353800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:143324600-143331400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:143324600-143331600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr3:143324600-143336400	Weak transcription	Fetal Stomach	stomach
9	chr3:143328000-143331400	Weak transcription	Adipose Nuclei	Adipose
10	chr3:143328200-143332200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:143328200-143376200	Weak transcription	Ovary	ovary
12	chr3:143328400-143332200	Weak transcription	HSMMtube	muscle
13	chr3:143328400-143346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:143329600-143331400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:143329600-143337200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:143329800-143334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:143331200-143331400	Enhancers	HMEC	breast
18	chr3:143331200-143334400	Enhancers	Muscle Satellite Cultured Cells	--

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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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