Variant report

Variant	rs9694294
Chromosome Location	chr8:11350721-11350722
allele	C/G
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	STAT5A	chr8:11349083-11353262	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942 chr8:11351042-11351049 chr8:11352671-11352682
2	SPI1	chr8:11350464-11351243	GM12891	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
3	RCOR1	chr8:11349075-11352611	GM12878	blood:	n/a	n/a
4	SPI1	chr8:11350641-11351162	GM12878	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051
5	FOXM1	chr8:11348939-11352758	GM12878	blood:	n/a	n/a
6	NFATC1	chr8:11349083-11352677	GM12878	blood:	n/a	n/a
7	MAX	chr8:11349289-11352553	GM12878	blood:	n/a	chr8:11350650-11350660 chr8:11350650-11350659 chr8:11351841-11351851
8	POLR2A	chr8:11349424-11352600	GM12878	blood:	n/a	n/a
9	BHLHE40	chr8:11349162-11351476	GM12878	blood:	n/a	n/a
10	BCLAF1	chr8:11348871-11353485	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714 chr8:11349172-11349179
11	RELA	chr8:11349255-11351265	GM12891	blood:	n/a	n/a
12	NFATC1	chr8:11349138-11353285	GM12878	blood:	n/a	n/a
13	NFIC	chr8:11348816-11353401	GM12878	blood:	n/a	chr8:11352085-11352101
14	POLR2A	chr8:11349389-11352610	GM12878	blood:	n/a	n/a
15	TCF12	chr8:11350711-11351041	GM12878	blood:	n/a	n/a
16	RELA	chr8:11349256-11351231	GM18951	blood:	n/a	n/a
17	CHD2	chr8:11349285-11351579	GM12878	blood:	n/a	n/a
18	STAT5A	chr8:11348975-11350956	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942
19	POLR2A	chr8:11350704-11352631	GM19099	blood:	n/a	n/a
20	PML	chr8:11350568-11351048	GM12878	blood:	n/a	n/a
21	RELA	chr8:11349085-11352720	GM12878	blood:	n/a	n/a
22	CUX1	chr8:11350534-11351253	GM12878	blood:	n/a	n/a
23	SPI1	chr8:11350452-11351236	GM12891	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
24	POLR2A	chr8:11348731-11357871	GM12878	blood:	n/a	n/a
25	ELK1	chr8:11350469-11351191	GM12878	blood:	n/a	n/a
26	FOXM1	chr8:11349085-11352717	GM12878	blood:	n/a	n/a
27	SPI1	chr8:11349183-11351453	GM12878	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
28	POLR2A	chr8:11349332-11352688	GM12892	blood:	n/a	n/a
29	MTA3	chr8:11349139-11352733	GM12878	blood:	n/a	n/a
30	BCLAF1	chr8:11349213-11352688	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714
31	TCF3	chr8:11349320-11351311	GM12878	blood:	n/a	chr8:11350864-11350879
32	MXI1	chr8:11349147-11352672	GM12878	blood:	n/a	n/a
33	RELA	chr8:11348954-11351628	GM10847	blood:	n/a	n/a
34	POLR2A	chr8:11349422-11352626	GM19193	blood:	n/a	n/a
35	POLR2A	chr8:11348894-11357440	GM12878	blood:	n/a	n/a
36	ELF1	chr8:11350004-11351158	GM12878	blood:	n/a	chr8:11351043-11351054
37	POLR2A	chr8:11348840-11353431	Raji	blood:	n/a	n/a
38	POLR2A	chr8:11348797-11357460	GM12878	blood:	n/a	n/a
39	NRF1	chr8:11350454-11351491	GM12878	blood:	n/a	chr8:11350608-11350622
40	PAX5	chr8:11349230-11350747	GM12878	blood:	n/a	chr8:11349705-11349714
41	POLR2A	chr8:11348826-11357664	GM18505	blood:	n/a	n/a
42	IKZF1	chr8:11349242-11351367	GM12878	blood:	n/a	n/a
43	CHD1	chr8:11349035-11353547	GM12878	blood:	n/a	n/a
44	PML	chr8:11348838-11353257	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:11348927-11353187	GM12878	blood:	n/a	n/a
46	MTA3	chr8:11348542-11357777	GM12878	blood:	n/a	n/a
47	MAZ	chr8:11350709-11353288	GM12878	blood:	n/a	chr8:11351841-11351851
48	POLR2A	chr8:11349359-11352599	GM12891	blood:	n/a	n/a
49	EP300	chr8:11349025-11351404	GM12878	blood:	n/a	chr8:11349705-11349719 chr8:11351043-11351052 chr8:11351016-11351030
50	POLR2A	chr8:11349180-11353783	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs13256690	0.91[ASN][1000 genomes]
rs13277113	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1382568	0.87[ASN][1000 genomes]
rs1478887	0.81[ASN][1000 genomes]
rs1478895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478900	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1478901	0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1531577	0.92[ASN][1000 genomes]
rs1564267	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17153385	0.85[MEX][hapmap]
rs2061831	0.83[ASN][1000 genomes]
rs2244234	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2250412	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254546	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254660	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2254891	0.88[ASN][1000 genomes]
rs2409780	0.81[ASN][1000 genomes]
rs2618444	0.81[ASN][1000 genomes]
rs2618455	0.82[CHB][hapmap];0.85[MEX][hapmap]
rs2618456	0.82[CHB][hapmap]
rs2618457	0.81[CHB][hapmap]
rs2618473	0.85[ASN][1000 genomes]
rs2618476	0.94[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2618478	0.94[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2618479	0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2618480	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618481	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2736332	0.83[ASN][1000 genomes]
rs2736335	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2736340	0.85[ASN][1000 genomes]
rs2736343	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736345	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2736353	0.81[CHB][hapmap]
rs2736354	0.81[CHB][hapmap];0.85[MEX][hapmap]
rs2736355	0.81[CHB][hapmap]
rs35393613	0.88[ASN][1000 genomes]
rs4840565	0.95[ASN][1000 genomes]
rs4840568	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs62489069	0.88[ASN][1000 genomes]
rs6993775	0.81[CHB][hapmap]
rs7812879	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922483	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9693589	0.83[ASN][1000 genomes]
rs998682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998683	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9694294	FLJ10661	cis	cerebellum	SCAN
rs9694294	C8orf13	cis	multi-tissue	Pritchard
rs9694294	C8orf79	cis	cerebellum	SCAN
rs9694294	FAM167A	cis	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:11344200-11353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11349000-11350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:11349000-11351600	Enhancers	Fetal Thymus	thymus
5	chr8:11349000-11351800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:11349000-11351800	Enhancers	Thymus	Thymus
7	chr8:11349200-11350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:11349600-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:11349800-11351800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr8:11349800-11351800	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr8:11349800-11351800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:11349800-11352000	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:11349800-11354000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:11350000-11350800	Enhancers	NHDF-Ad	bronchial
15	chr8:11350000-11352200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:11350000-11352600	Weak transcription	Osteobl	bone
17	chr8:11350200-11351000	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:11350200-11351000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr8:11350200-11351800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:11350200-11356600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:11350400-11350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:11350400-11350800	Enhancers	Dnd41	blood
23	chr8:11350400-11351600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:11350400-11351800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:11350400-11351800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:11350400-11352800	Weak transcription	NH-A	brain
27	chr8:11350400-11354200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:11350400-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:11350400-11355400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:11350600-11351200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:11350600-11351400	Weak transcription	Primary T cells from cord blood	blood
32	chr8:11350600-11352000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:11350600-11354200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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