Variant report

Variant	rs4799633
Chromosome Location	chr18:29719074-29719075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29671748..29674149-chr18:29717324..29719515,2	K562	blood:
2	chr18:29714493..29716790-chr18:29718511..29720452,2	K562	blood:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000134758	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048285	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10048287	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1054667	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10853418	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10853419	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11081746	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11081747	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11661197	0.83[EUR][1000 genomes]
rs11663563	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12605137	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1808891	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2010813	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018380	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2048245	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3980846	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3980848	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4799632	0.83[EUR][1000 genomes]
rs7238559	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9676102	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs993897	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4799633	RNF138	cis	Esophagus Mucosa	GTEx
rs4799633	RNF138	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29709600-29719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr18:29714800-29720200	Weak transcription	Fetal Intestine Small	intestine
3	chr18:29718200-29719800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr18:29718400-29719400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr18:29719000-29719600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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