Variant report

Variant	rs4683182
Chromosome Location	chr3:46173936-46173937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1388605	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs1388606	0.82[AMR][1000 genomes]
rs1392288	0.85[CEU][hapmap]
rs1546076	1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs1809733	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs1826342	0.82[AMR][1000 genomes]
rs1873617	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1873618	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2373152	0.82[AMR][1000 genomes]
rs2373155	0.86[CEU][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4682811	0.82[AMR][1000 genomes]
rs6807578	0.82[AMR][1000 genomes]
rs7622333	1.00[YRI][hapmap]
rs7634822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9820016	1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4683182	FYCO1	cis	lung	GTEx
rs4683182	CXCR6	cis	parietal	SCAN
rs4683182	CCR3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46167000-46175600	Weak transcription	Fetal Lung	lung
2	chr3:46168800-46178200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46170000-46177200	Enhancers	Fetal Thymus	thymus
4	chr3:46170800-46174200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:46171600-46175400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr3:46171800-46174000	Enhancers	Adipose Nuclei	Adipose
7	chr3:46172200-46174800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:46172600-46174000	Enhancers	Liver	Liver
9	chr3:46172800-46174200	Active TSS	Primary B cells from cord blood	blood
10	chr3:46172800-46174600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:46173000-46176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:46173200-46175000	Weak transcription	GM12878-XiMat	blood
13	chr3:46173200-46175200	Enhancers	Placenta	Placenta
14	chr3:46173400-46174000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:46173400-46174400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:46173400-46175200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr3:46173800-46176400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:46173800-46184400	Weak transcription	Spleen	Spleen

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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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