Variant report

Variant	rs8017044
Chromosome Location	chr14:78824301-78824302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10131390	0.83[CHB][hapmap]
rs10135795	0.84[TSI][hapmap]
rs10136254	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs10139602	0.83[CHB][hapmap];0.91[EUR][1000 genomes]
rs11159357	0.85[TSI][hapmap]
rs12887343	0.90[EUR][1000 genomes]
rs12893958	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs2110426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2110427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap]
rs2215837	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs6574434	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs6574440	1.00[CEU][hapmap];0.81[GIH][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs6574441	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs7143565	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs7149345	0.88[CEU][hapmap]
rs7156727	0.90[EUR][1000 genomes]
rs7157332	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs8006004	0.84[ASW][hapmap];0.84[CEU][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8006308	0.89[EUR][1000 genomes]
rs8007953	0.90[EUR][1000 genomes]
rs8008554	0.84[TSI][hapmap]
rs8008709	0.84[TSI][hapmap]
rs965408	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8017044	ENTPD5	cis	parietal	SCAN
rs8017044	ACOT4	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78814600-78825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:78820200-78826000	Enhancers	Brain Germinal Matrix	brain
3	chr14:78821600-78826600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:78821600-78827000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:78822200-78825200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr14:78822400-78825400	Enhancers	Brain Anterior Caudate	brain
7	chr14:78822600-78825200	Enhancers	Brain Hippocampus Middle	brain
8	chr14:78822600-78825200	Enhancers	Brain Substantia Nigra	brain
9	chr14:78822600-78826000	Enhancers	Fetal Brain Male	brain
10	chr14:78823000-78824600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:78823000-78824600	Weak transcription	Fetal Brain Female	brain
12	chr14:78823000-78824800	Weak transcription	Brain Angular Gyrus	brain
13	chr14:78823400-78824400	Weak transcription	Brain Cingulate Gyrus	brain

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