Variant report

Variant	rs17094781
Chromosome Location	chr14:97453678-97453679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1280080	0.81[AMR][1000 genomes]
rs1683105	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs710265	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7145909	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7146369	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74076844	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs856257	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs856259	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs856269	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs856277	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs856278	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs861322	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs863084	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17094781	VRK1	cis	parietal	SCAN
rs17094781	SERPINA13	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97452000-97456000	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:97452200-97455200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr14:97452400-97454200	Enhancers	Primary T cells from cord blood	blood
4	chr14:97452400-97455000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr14:97452400-97455600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:97452400-97456200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:97452600-97454400	Enhancers	Primary B cells from cord blood	blood
8	chr14:97452600-97454600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:97452600-97454600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr14:97452600-97456200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:97453000-97453800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:97453000-97454200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:97453000-97454200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr14:97453000-97454600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr14:97453200-97454000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:97453200-97454000	Enhancers	Dnd41	blood
17	chr14:97453200-97454200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr14:97453200-97454200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:97453200-97454200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:97453200-97454200	Enhancers	GM12878-XiMat	blood
21	chr14:97453200-97454400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:97453200-97454600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:97453200-97454800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr14:97453400-97454200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:97453400-97454600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:97453600-97453800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr14:97453600-97454000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:97453600-97454200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:97453600-97454400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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