Variant report

Variant	rs4814518
Chromosome Location	chr20:16601211-16601212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs4813230	0.88[ASN][1000 genomes]
rs4813231	0.90[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4813232	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs6034555	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6044149	0.81[CEU][hapmap]
rs6044174	0.88[ASN][1000 genomes]
rs6044175	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6080303	0.81[CHB][hapmap]
rs6080312	0.85[CHB][hapmap]
rs6080332	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6080333	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6080334	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6080338	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs6135800	0.81[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525956	chr20:16593159-16601519	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4814518	C20orf23	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16590000-16602400	Weak transcription	Right Atrium	heart
2	chr20:16598400-16605600	Weak transcription	Fetal Lung	lung
3	chr20:16600000-16602000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:16600200-16602000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr20:16600600-16601800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:16600800-16601400	Enhancers	Small Intestine	intestine

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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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