Variant report

Variant	rs1434781
Chromosome Location	chr8:69066793-69066794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:69066588-69066902	H1-neurons	neurons:	n/a	n/a
2	EBF1	chr8:69066715-69066850	GM12878	blood:	n/a	chr8:69066769-69066780

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68988620..68991285-chr8:69064188..69067097,2	K562	blood:

Variant related genes	Relation type
PREX2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10105053	0.89[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13253979	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1369165	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545065	0.85[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1865428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1897873	0.81[AMR][1000 genomes]
rs2003187	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2082701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2164168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007590	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819318	0.96[CEU][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874805	0.89[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][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	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1792589	chr8:69066748-69085741	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1434781	C8orf46	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
2	chr8:69021000-69067600	Weak transcription	Right Ventricle	heart
3	chr8:69033200-69066800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:69041000-69068400	Weak transcription	Lung	lung
5	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:69045400-69066800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:69046800-69070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:69047000-69070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:69055800-69070800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:69061800-69074000	Weak transcription	Adipose Nuclei	Adipose
13	chr8:69063800-69068200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:69064800-69067200	Strong transcription	HUVEC	blood vessel
15	chr8:69065200-69067600	Enhancers	K562	blood
16	chr8:69065200-69070000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:69065200-69074000	Weak transcription	Left Ventricle	heart
18	chr8:69065600-69070600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:69066200-69066800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:69066200-69067000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:69066200-69067200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:69066200-69067400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:69066200-69067400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:69066200-69067400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:69066600-69067600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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