Variant report

Variant	rs1885162
Chromosome Location	chr14:97371939-97371940
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	chr14:97368790..97370505-chr14:97371182..97373886,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12587324	0.83[ASN][1000 genomes]
rs12880379	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2145642	0.83[ASN][1000 genomes]
rs34459530	0.83[ASN][1000 genomes]
rs61981034	0.83[ASN][1000 genomes]
rs749280	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8019314	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8019561	0.96[AMR][1000 genomes];0.97[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1885162	VRK1	cis	cerebellum	SCAN
rs1885162	VRK1	cis	parietal	SCAN
rs1885162	IFI27L2	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97331000-97378400	Weak transcription	A549	lung
2	chr14:97349200-97377400	Weak transcription	Primary T cells from cord blood	blood
3	chr14:97356000-97376600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:97361400-97374000	Weak transcription	Pancreas	Pancrea
5	chr14:97362600-97374800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:97364000-97373000	Weak transcription	K562	blood
7	chr14:97366800-97372600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:97367600-97372800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:97368600-97391400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:97368800-97373200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:97368800-97374200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:97368800-97374800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:97369000-97373800	Weak transcription	Fetal Thymus	thymus
14	chr14:97370000-97374000	Strong transcription	Dnd41	blood
15	chr14:97370400-97372600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:97370400-97373000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:97371000-97373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:97371600-97373000	Enhancers	Adipose Nuclei	Adipose
19	chr14:97371800-97373000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr14:97371800-97373000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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