Variant report

Variant	rs11622737
Chromosome Location	chr14:97387699-97387700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11851985	0.83[EUR][1000 genomes]
rs1280081	0.96[EUR][1000 genomes]
rs1683107	0.88[EUR][1000 genomes]
rs17094694	0.88[EUR][1000 genomes]
rs17094783	0.81[EUR][1000 genomes]
rs1738908	0.88[EUR][1000 genomes]
rs17759833	0.96[EUR][1000 genomes]
rs17759977	0.80[CEU][hapmap];0.91[EUR][1000 genomes]
rs17760210	0.88[EUR][1000 genomes]
rs4900356	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs57973784	0.86[EUR][1000 genomes]
rs60617803	0.81[EUR][1000 genomes]
rs60639287	0.86[EUR][1000 genomes]
rs60900692	0.81[EUR][1000 genomes]
rs6575605	0.83[EUR][1000 genomes]
rs710266	0.88[EUR][1000 genomes]
rs710267	0.88[EUR][1000 genomes]
rs7149912	0.89[EUR][1000 genomes]
rs74076189	0.86[EUR][1000 genomes]
rs74076200	0.88[EUR][1000 genomes]
rs74076840	0.81[EUR][1000 genomes]
rs74076841	0.81[EUR][1000 genomes]
rs74076845	0.81[EUR][1000 genomes]
rs74076846	0.81[EUR][1000 genomes]
rs74076847	0.81[EUR][1000 genomes]
rs74076849	0.81[EUR][1000 genomes]
rs74076850	0.81[EUR][1000 genomes]
rs74076851	0.81[EUR][1000 genomes]
rs74076853	0.81[EUR][1000 genomes]
rs74076856	0.81[EUR][1000 genomes]
rs74076857	0.81[EUR][1000 genomes]
rs74078739	0.93[EUR][1000 genomes]
rs74078741	0.91[EUR][1000 genomes]
rs746127	1.00[YRI][hapmap]
rs8016620	0.80[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs856225	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs856252	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs856266	0.88[EUR][1000 genomes]
rs856271	0.89[EUR][1000 genomes]
rs856274	0.83[EUR][1000 genomes]
rs856279	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv832867	chr14:97365919-97541763	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11622737	VRK1	cis	parietal	SCAN
rs11622737	VRK1	cis	cerebellum	SCAN
rs11622737	PAPOLA	cis	parietal	SCAN
rs11622737	SERPINA13	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97368600-97391400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:97379000-97387800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:97379400-97411800	Weak transcription	Primary T cells from cord blood	blood
4	chr14:97386000-97387800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr14:97386200-97387800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:97386600-97387800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr14:97386600-97388400	ZNF genes & repeats	Dnd41	blood
8	chr14:97387000-97388000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:97387000-97391400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:97387200-97389400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:97387200-97395200	Weak transcription	Fetal Brain Male	brain
12	chr14:97387600-97388000	Enhancers	K562	blood

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