Variant report

Variant	rs17094783
Chromosome Location	chr14:97456541-97456542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97450622..97452449-chr14:97455717..97457862,2	K562	blood:
2	chr14:97450949..97452696-chr14:97456362..97458662,2	K562	blood:
3	chr14:97456234..97458409-chr14:97461531..97463727,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11622737	0.81[EUR][1000 genomes]
rs11851985	0.97[EUR][1000 genomes]
rs1280081	0.84[EUR][1000 genomes]
rs1683107	0.92[EUR][1000 genomes]
rs17094694	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1738908	0.92[EUR][1000 genomes]
rs17759833	0.84[EUR][1000 genomes]
rs17759977	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17760210	0.92[EUR][1000 genomes]
rs2179940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60617803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60900692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6575605	0.97[EUR][1000 genomes]
rs710266	0.92[EUR][1000 genomes]
rs710267	0.92[EUR][1000 genomes]
rs7149912	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74076840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078739	0.87[EUR][1000 genomes]
rs74078741	0.89[EUR][1000 genomes]
rs856225	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs856266	0.92[EUR][1000 genomes]
rs856271	0.91[EUR][1000 genomes]
rs856274	0.97[EUR][1000 genomes]
rs856279	0.92[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17094783	BTBD7	cis	parietal	SCAN
rs17094783	PAPOLA	cis	parietal	SCAN
rs17094783	VRK1	cis	parietal	SCAN
rs17094783	SERPINA13	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97454000-97456800	Weak transcription	Dnd41	blood
2	chr14:97454400-97458400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:97455200-97456600	Enhancers	Brain Cingulate Gyrus	brain
4	chr14:97455400-97456600	Enhancers	Brain Angular Gyrus	brain
5	chr14:97455400-97456600	Enhancers	Brain Anterior Caudate	brain
6	chr14:97455400-97456600	Enhancers	Brain Substantia Nigra	brain
7	chr14:97456000-97457400	Weak transcription	Primary B cells from peripheral blood	blood

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