Variant report

Variant	rs12090051
Chromosome Location	chr1:212422266-212422267
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735509	0.82[AFR][1000 genomes]
rs10779577	0.85[AFR][1000 genomes]
rs10863958	0.83[AFR][1000 genomes]
rs11119889	0.87[EUR][1000 genomes]
rs11119896	0.87[EUR][1000 genomes]
rs12082507	0.84[EUR][1000 genomes]
rs17018845	0.87[EUR][1000 genomes]
rs57056017	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs57737965	0.87[EUR][1000 genomes]
rs66522154	0.87[EUR][1000 genomes]
rs67053561	0.87[EUR][1000 genomes]
rs72752361	0.87[EUR][1000 genomes]
rs7523303	0.87[EUR][1000 genomes]
rs7527666	0.87[EUR][1000 genomes]
rs7538428	0.87[EUR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212416600-212430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212418000-212423800	Weak transcription	Stomach Mucosa	stomach
3	chr1:212418200-212428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:212419600-212422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:212419800-212425200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:212421000-212422400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:212421000-212423000	Enhancers	HepG2	liver
8	chr1:212421200-212422400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:212421600-212428400	Weak transcription	Right Ventricle	heart
10	chr1:212421800-212427600	Weak transcription	Liver	Liver

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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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