Variant report

Variant	rs529193
Chromosome Location	chr4:20250766-20250767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1323065	1.00[ASN][1000 genomes]
rs2575077	1.00[ASN][1000 genomes]
rs2760134	1.00[ASN][1000 genomes]
rs4552453	1.00[ASN][1000 genomes]
rs496159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs508726	1.00[ASN][1000 genomes]
rs527371	1.00[ASN][1000 genomes]
rs593943	1.00[ASN][1000 genomes]
rs611907	1.00[ASN][1000 genomes]
rs615576	1.00[ASN][1000 genomes]
rs624354	1.00[ASN][1000 genomes]
rs625909	1.00[ASN][1000 genomes]
rs643189	1.00[ASN][1000 genomes]
rs643562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793380	1.00[ASN][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	nsv878736	chr4:20233035-20279858	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878737	chr4:20233035-20282334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20248000-20252200	Weak transcription	Fetal Lung	lung
2	chr4:20248800-20251200	Enhancers	NHDF-Ad	bronchial
3	chr4:20249000-20252600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:20250000-20250800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:20250000-20252200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:20250200-20252600	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:20250200-20252800	Weak transcription	HUVEC	blood vessel
8	chr4:20250200-20252800	Weak transcription	NHEK	skin
9	chr4:20250400-20252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:20250400-20252600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:20250400-20252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:20250400-20252800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:20250400-20252800	Weak transcription	Hela-S3	cervix
14	chr4:20250600-20251000	Weak transcription	Osteobl	bone
15	chr4:20250600-20252000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:20250600-20252600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:20250600-20252800	Weak transcription	NHLF	lung

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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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