Variant report

Variant	rs8019561
Chromosome Location	chr14:97377993-97377994
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	chr14:97375172..97378405-chr14:97381743..97385495,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12587324	0.83[ASN][1000 genomes]
rs12880379	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1885162	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2145642	0.82[ASN][1000 genomes]
rs34459530	0.82[ASN][1000 genomes]
rs61981034	0.85[ASN][1000 genomes]
rs749280	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8019314	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8019561	VRK1	cis	cerebellum	SCAN
rs8019561	VRK1	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97331000-97378400	Weak transcription	A549	lung
2	chr14:97368600-97391400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:97376400-97378800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:97376600-97379000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:97376800-97387600	Weak transcription	Thymus	Thymus
6	chr14:97377000-97378800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:97377200-97378400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:97377200-97380400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:97377400-97378800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:97377400-97379000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:97377400-97379400	Enhancers	Primary T cells from cord blood	blood
12	chr14:97377600-97378400	Enhancers	K562	blood
13	chr14:97377600-97378600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:97377600-97379200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:97377600-97379800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:97377600-97380600	Weak transcription	Dnd41	blood
17	chr14:97377800-97378000	Weak transcription	Spleen	Spleen
18	chr14:97377800-97378200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:97377800-97378400	Enhancers	Primary hematopoietic stem cells	blood
20	chr14:97377800-97379000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:97377800-97379000	Enhancers	Primary T helper cells PMA-I stimulated	--

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