Variant report

Variant	rs2268197
Chromosome Location	chr20:23014459-23014460
allele	C/G
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]
rs2207106	0.85[AFR][1000 genomes]
rs2207107	0.85[AFR][1000 genomes]
rs2268199	0.86[AFR][1000 genomes]
rs36016048	0.85[AFR][1000 genomes]
rs3746726	0.83[AFR][1000 genomes]
rs3746728	0.88[AFR][1000 genomes]
rs6076008	0.82[AFR][1000 genomes]
rs6076010	0.90[AFR][1000 genomes]
rs6076012	0.82[AFR][1000 genomes]
rs6076013	0.81[AFR][1000 genomes]
rs6082986	0.81[AFR][1000 genomes]
rs6106596	0.85[AFR][1000 genomes]
rs6113905	0.91[AFR][1000 genomes]
rs6113908	0.85[AFR][1000 genomes]
rs7262749	0.90[AFR][1000 genomes]
rs8120756	0.90[AFR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv524981	chr20:23011468-23021597	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23001000-23015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:23011400-23014600	Enhancers	Dnd41	blood
3	chr20:23012000-23014800	Enhancers	Right Ventricle	heart
4	chr20:23012600-23014600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr20:23013200-23016200	Weak transcription	Lung	lung
6	chr20:23013200-23017400	Enhancers	Fetal Heart	heart
7	chr20:23014000-23015600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr20:23014000-23015800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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