Variant report

Variant	rs4900345
Chromosome Location	chr14:97249013-97249014
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97246983..97249194-chr14:97251275..97253607,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10132573	0.83[ASN][1000 genomes]
rs10135234	0.91[CHB][hapmap];0.92[CHD][hapmap];0.83[ASN][1000 genomes]
rs10135283	0.91[CHB][hapmap];0.92[CHD][hapmap];0.86[MEX][hapmap];0.83[ASN][1000 genomes]
rs12433112	0.81[CHB][hapmap]
rs12587775	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12589919	0.87[CHD][hapmap]
rs12878184	0.81[CHB][hapmap]
rs12880425	0.87[ASW][hapmap];0.82[JPT][hapmap]
rs12882176	0.84[ASN][1000 genomes]
rs12882386	0.91[ASN][1000 genomes]
rs12883251	0.97[ASN][1000 genomes]
rs12894621	0.81[CHB][hapmap]
rs12897588	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs1957134	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs1957135	0.91[CHB][hapmap];0.96[CHD][hapmap];0.90[MEX][hapmap];0.88[YRI][hapmap];0.83[ASN][1000 genomes]
rs2145636	0.81[CHB][hapmap]
rs2145638	0.91[CHB][hapmap];0.88[YRI][hapmap];0.83[ASN][1000 genomes]
rs2145639	0.82[ASN][1000 genomes]
rs2230532	0.81[CHB][hapmap]
rs4270096	0.81[CHB][hapmap]
rs4900346	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs4900350	0.81[CHB][hapmap]
rs4900353	0.87[CHD][hapmap]
rs4905548	0.81[CHB][hapmap]
rs61980999	0.83[ASN][1000 genomes]
rs7156355	0.81[CHB][hapmap]
rs723810	0.81[CHB][hapmap]
rs764300	0.81[CHB][hapmap]
rs8013081	0.81[CHB][hapmap]
rs872954	0.86[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9323955	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4900345	VRK1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97246800-97250000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr14:97248800-97249400	Enhancers	NHEK	skin
3	chr14:97248800-97249600	Enhancers	HMEC	breast
4	chr14:97248800-97250000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:97248800-97251400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:97249000-97249400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:97249000-97252600	Enhancers	Primary monocytes fromperipheralblood	blood

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