Variant report

Variant	rs4651308
Chromosome Location	chr1:175057248-175057249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11805690	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808695	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4651307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57928330	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61742080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658058	1.00[ASN][1000 genomes]
rs6675759	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686400	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691555	1.00[ASN][1000 genomes]
rs6691857	1.00[ASN][1000 genomes]
rs6703323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044981	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543595	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012861	chr1:175021780-175063160	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv535210	chr1:175021780-175063160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv3609	chr1:175046412-175094406	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175043200-175057400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:175043200-175058600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:175045600-175058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:175047000-175065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:175056400-175059600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:175056800-175058200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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