Variant report

Variant	rs1420965
Chromosome Location	chr18:25248590-25248591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11083220	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12458483	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1362726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420936	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1420938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1420943	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1420964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477186	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17721591	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2041978	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7232506	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8083881	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8085428	0.99[ASN][1000 genomes]
rs8088804	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8091588	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8092380	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs888291	0.87[EUR][1000 genomes]
rs888295	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971244	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9952141	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9952238	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9958477	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9962024	0.85[EUR][1000 genomes]
rs9963988	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9965477	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv833604	chr18:25226727-25417423	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv962948	chr18:25241568-25248773	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1420965	ANKRD29	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25240200-25249200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:25245000-25248800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:25245200-25249200	Enhancers	Osteobl	bone
4	chr18:25245400-25249200	Enhancers	Fetal Heart	heart
5	chr18:25246000-25249000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:25246800-25248800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:25247600-25249200	Weak transcription	Fetal Intestine Large	intestine
8	chr18:25247600-25249200	Weak transcription	Fetal Intestine Small	intestine
9	chr18:25247800-25248800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr18:25248400-25248800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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