Variant report

Variant	rs856279
Chromosome Location	chr14:97429870-97429871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97423279..97425568-chr14:97429181..97431047,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11622737	0.88[EUR][1000 genomes]
rs11851985	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1280081	0.92[EUR][1000 genomes]
rs1683097	0.95[AMR][1000 genomes]
rs1683107	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094694	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094783	0.92[EUR][1000 genomes]
rs1738908	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17759833	0.92[EUR][1000 genomes]
rs17759977	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17760210	1.00[EUR][1000 genomes]
rs2179940	0.91[EUR][1000 genomes]
rs60617803	0.92[EUR][1000 genomes]
rs60900692	0.92[EUR][1000 genomes]
rs6575605	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs710266	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs710267	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7149912	0.99[EUR][1000 genomes]
rs74076840	0.92[EUR][1000 genomes]
rs74076841	0.92[EUR][1000 genomes]
rs74076845	0.92[EUR][1000 genomes]
rs74076846	0.92[EUR][1000 genomes]
rs74076847	0.92[EUR][1000 genomes]
rs74076849	0.92[EUR][1000 genomes]
rs74076850	0.92[EUR][1000 genomes]
rs74076851	0.92[EUR][1000 genomes]
rs74076853	0.92[EUR][1000 genomes]
rs74076856	0.92[EUR][1000 genomes]
rs74076857	0.92[EUR][1000 genomes]
rs74078739	0.95[EUR][1000 genomes]
rs74078741	0.97[EUR][1000 genomes]
rs856225	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs856266	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs856271	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs856274	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv902212	chr14:97413032-97474908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1048462	chr14:97421360-97804598	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv988078	chr14:97421582-97430696	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs856279	PAPOLA	cis	parietal	SCAN
rs856279	VRK1	cis	cerebellum	SCAN
rs856279	VRK1	cis	parietal	SCAN
rs856279	SERPINA13	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97420200-97430800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:97426200-97431400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr14:97426400-97430200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:97426400-97431200	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:97427200-97432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:97427600-97431800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:97428400-97431600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:97428600-97430000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr14:97428600-97430200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:97428800-97431000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:97429000-97433400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr14:97429200-97430400	Enhancers	Primary T cells from cord blood	blood
13	chr14:97429200-97431000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:97429200-97433000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr14:97429400-97430000	Enhancers	Primary B cells from cord blood	blood
16	chr14:97429400-97430400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:97429400-97431200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:97429400-97433400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:97429400-97433600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:97429400-97434000	Enhancers	Fetal Brain Male	brain
21	chr14:97429600-97430200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:97429600-97430400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:97429800-97430000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:97429800-97430000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr14:97429800-97433400	Enhancers	Brain Germinal Matrix	brain

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