Variant report

Variant	rs1369165
Chromosome Location	chr8:69065096-69065097
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	E2F6	chr8:69064855-69065390	K562	blood:	n/a	n/a
2	GATA2	chr8:69065007-69065448	K562	blood:	n/a	chr8:69065214-69065230 chr8:69065191-69065208 chr8:69065186-69065202
3	IRF1	chr8:69065046-69065864	K562	blood:	n/a	chr8:69065140-69065154 chr8:69065134-69065151
4	POLR2A	chr8:69065041-69065306	K562	blood:	n/a	n/a
5	TAL1	chr8:69064872-69065649	K562	blood:	n/a	chr8:69065190-69065208
6	EP300	chr8:69065076-69065583	K562	blood:	n/a	n/a
7	POLR2A	chr8:69065022-69065346	K562	blood:	n/a	n/a
8	HCFC1	chr8:69064679-69065506	K562	blood:	n/a	n/a
9	EP300	chr8:69064935-69065415	K562	blood:	n/a	n/a
10	CUX1	chr8:69064836-69065356	K562	blood:	n/a	n/a
11	TBL1XR1	chr8:69065049-69065417	K562	blood:	n/a	n/a
12	IRF1	chr8:69065052-69065409	K562	blood:	n/a	chr8:69065140-69065154 chr8:69065134-69065151
13	MAX	chr8:69064945-69065410	K562	blood:	n/a	n/a
14	CCNT2	chr8:69064911-69065453	K562	blood:	n/a	chr8:69065188-69065208
15	CEBPD	chr8:69064919-69065523	K562	blood:	n/a	n/a
16	TBL1XR1	chr8:69065027-69065373	K562	blood:	n/a	n/a
17	IRF1	chr8:69064983-69065497	K562	blood:	n/a	chr8:69065140-69065154 chr8:69065134-69065151
18	STAT5A	chr8:69064904-69065434	K562	blood:	n/a	n/a
19	MAFF	chr8:69065040-69065872	K562	blood:	n/a	n/a
20	CEBPD	chr8:69064945-69065458	K562	blood:	n/a	n/a
21	ARID3A	chr8:69065036-69065683	K562	blood:	n/a	n/a
22	POLR2A	chr8:69064954-69065359	K562	blood:	n/a	n/a
23	NR2F2	chr8:69064878-69065521	K562	blood:	n/a	n/a
24	MAZ	chr8:69064943-69065474	K562	blood:	n/a	n/a
25	GATA2	chr8:69064991-69065357	K562	blood:	n/a	chr8:69065214-69065230 chr8:69065191-69065208 chr8:69065186-69065202
26	TRIM28	chr8:69064898-69065456	K562	blood:	n/a	chr8:69065155-69065163
27	TEAD4	chr8:69064927-69065458	K562	blood:	n/a	n/a
28	ATF1	chr8:69064784-69065461	K562	blood:	n/a	n/a
29	CBX3	chr8:69065006-69065499	K562	blood:	n/a	n/a
30	CBX3	chr8:69064924-69065428	K562	blood:	n/a	n/a
31	GATA1	chr8:69064860-69065653	K562	blood:	n/a	chr8:69065214-69065230 chr8:69065191-69065208 chr8:69065186-69065202
32	MAX	chr8:69064895-69065479	K562	blood:	n/a	n/a
33	TBP	chr8:69064866-69065395	K562	blood:	n/a	n/a
34	MAX	chr8:69065036-69065344	K562	blood:	n/a	n/a
35	GATA2	chr8:69064993-69065403	K562	blood:	n/a	chr8:69065214-69065230 chr8:69065191-69065208 chr8:69065186-69065202
36	YY1	chr8:69065082-69065470	K562	blood:	n/a	n/a
37	STAT5A	chr8:69065023-69065402	K562	blood:	n/a	n/a
38	NR2F2	chr8:69064987-69065388	K562	blood:	n/a	n/a
39	ZNF143	chr8:69065085-69065320	K562	blood:	n/a	n/a
40	ZNF384	chr8:69064605-69065309	K562	blood:	n/a	n/a
41	MYC	chr8:69065019-69065502	K562	blood:	n/a	n/a
42	PML	chr8:69064949-69065481	K562	blood:	n/a	chr8:69065155-69065163
43	E2F6	chr8:69065042-69065283	K562	blood:	n/a	n/a
44	JUND	chr8:69064769-69065440	K562	blood:	n/a	n/a
45	NFYB	chr8:69064580-69065147	K562	blood:	n/a	n/a
46	POLR2A	chr8:69064990-69065402	K562	blood:	n/a	n/a
47	HMGN3	chr8:69064907-69065336	K562	blood:	n/a	n/a
48	ZMIZ1	chr8:69065010-69065439	K562	blood:	n/a	n/a
49	MAFK	chr8:69065040-69065828	K562	blood:	n/a	chr8:69065234-69065245 chr8:69065663-69065674 chr8:69065235-69065246 chr8:69065662-69065673 chr8:69065662-69065677 chr8:69065662-69065673 chr8:69065233-69065247 chr8:69065234-69065245
50	TEAD4	chr8:69064981-69065540	K562	blood:	n/a	n/a

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: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10105053	0.81[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13253979	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1434781	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	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1865428	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865429	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2003187	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2082701	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2164168	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217788	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007590	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819318	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828065	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874805	0.81[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1369165	C8orf46	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69007400-69066200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
3	chr8:69021000-69067600	Weak transcription	Right Ventricle	heart
4	chr8:69033200-69066800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:69041000-69068400	Weak transcription	Lung	lung
6	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
7	chr8:69045400-69066800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:69045600-69066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:69046800-69070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:69047000-69070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:69047800-69066200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:69050000-69065200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:69055800-69070800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:69059400-69066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:69059400-69066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:69061800-69074000	Weak transcription	Adipose Nuclei	Adipose
19	chr8:69063200-69066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:69063800-69068200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:69064400-69065600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:69064600-69065200	Flanking Active TSS	K562	blood
23	chr8:69064600-69065400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:69064800-69065200	ZNF genes & repeats	Left Ventricle	heart
25	chr8:69064800-69067200	Strong transcription	HUVEC	blood vessel

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