Variant report

Variant	rs4813230
Chromosome Location	chr20:16601519-16601520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1105853	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2207205	0.94[EUR][1000 genomes]
rs2328049	0.92[EUR][1000 genomes]
rs4813228	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4813229	0.84[EUR][1000 genomes]
rs4813231	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs4813232	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4814513	0.94[EUR][1000 genomes]
rs4814516	0.94[EUR][1000 genomes]
rs4814517	0.94[EUR][1000 genomes]
rs4814518	0.88[ASN][1000 genomes]
rs6034549	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6034552	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6034554	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6034555	0.90[ASN][1000 genomes]
rs6044161	0.94[EUR][1000 genomes]
rs6044162	0.95[EUR][1000 genomes]
rs6044169	0.81[EUR][1000 genomes]
rs6044170	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6044171	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6044173	0.83[EUR][1000 genomes]
rs6044174	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6044175	0.90[ASN][1000 genomes]
rs6075081	0.94[EUR][1000 genomes]
rs6080303	0.81[TSI][hapmap]
rs6080312	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs6080315	0.94[EUR][1000 genomes]
rs6080317	0.92[EUR][1000 genomes]
rs6080320	0.94[EUR][1000 genomes]
rs6080330	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6080332	0.81[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs6080333	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs6080334	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs6080338	0.81[ASN][1000 genomes]
rs6111200	0.94[EUR][1000 genomes]
rs6135809	0.95[EUR][1000 genomes]
rs928624	0.94[EUR][1000 genomes]
rs945239	0.93[EUR][1000 genomes]
rs945240	0.94[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4813230	KIF16B	cis	cerebellum	SCAN
rs4813230	KIF16B	cis	lymphoblastoid	seeQTL
rs4813230	C20orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 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

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