Variant report

Variant	rs9943582
Chromosome Location	chr11:57005067-57005068
allele	C/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	TEAD4	chr11:57004617-57005249	K562	blood:	n/a	n/a
2	MAX	chr11:57004977-57005173	K562	blood:	n/a	n/a
3	UBTF	chr11:57005032-57005068	K562	blood:	n/a	n/a
4	MAFK	chr11:57004854-57005140	K562	blood:	n/a	chr11:57004997-57005012
5	CBX3	chr11:57004601-57005245	K562	blood:	n/a	n/a
6	MAX	chr11:57004726-57005201	K562	blood:	n/a	n/a
7	ELF1	chr11:57004535-57005178	K562	blood:	n/a	n/a
8	IRF1	chr11:57004721-57005190	K562	blood:	n/a	chr11:57004927-57004941 chr11:57004834-57004848
9	TBP	chr11:57004695-57005193	K562	blood:	n/a	n/a
10	ATF1	chr11:57004618-57005088	K562	blood:	n/a	n/a
11	ZNF384	chr11:57004633-57005100	K562	blood:	n/a	n/a
12	TBL1XR1	chr11:57004780-57005138	K562	blood:	n/a	n/a
13	KAP1	chr11:57004674-57005149	U2OS	brain:	n/a	n/a
14	ARID3A	chr11:57004882-57005146	K562	blood:	n/a	n/a
15	SPI1	chr11:57004881-57005069	K562	blood:	n/a	n/a
16	ZBTB7A	chr11:57004677-57005072	K562	blood:	n/a	n/a
17	TBL1XR1	chr11:57004858-57005109	K562	blood:	n/a	n/a
18	EGR1	chr11:57004649-57005162	K562	blood:	n/a	chr11:57005001-57005010
19	EP300	chr11:57004709-57005118	K562	blood:	n/a	chr11:57004835-57004849
20	RCOR1	chr11:57004636-57005165	K562	blood:	n/a	n/a
21	RCOR1	chr11:57004666-57005384	K562	blood:	n/a	n/a
22	ELF1	chr11:57004872-57005261	K562	blood:	n/a	n/a
23	TAL1	chr11:57004693-57005280	K562	blood:	n/a	n/a
24	GATA1	chr11:57004698-57005403	PBDE	blood:	n/a	chr11:57005218-57005228 chr11:57005000-57005010
25	POLR2A	chr11:57004871-57005180	K562	blood:	n/a	n/a
26	CEBPB	chr11:57004726-57005183	K562	blood:	n/a	n/a
27	MAZ	chr11:57004582-57005263	K562	blood:	n/a	n/a
28	CUX1	chr11:57004739-57005103	K562	blood:	n/a	n/a
29	HMGN3	chr11:57004894-57005094	K562	blood:	n/a	n/a
30	EGR1	chr11:57004681-57005192	K562	blood:	n/a	chr11:57005001-57005010
31	JUND	chr11:57004642-57005118	K562	blood:	n/a	n/a

Variant related genes	Relation type
APLNR	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10501367	0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10736682	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10792079	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11544374	1.00[JPT][hapmap]
rs1893675	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs599947	0.88[EUR][1000 genomes]
rs7119375	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7928905	0.81[EUR][1000 genomes]
rs948844	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs948847	0.93[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9943582	OR5M9	cis	cerebellum	SCAN
rs9943582	OR8U1	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56999200-57007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:57003200-57007400	Weak transcription	HSMMtube	muscle
3	chr11:57003400-57005200	Enhancers	Lung	lung
4	chr11:57003400-57005400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:57003800-57005400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:57003800-57005400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:57004200-57005200	Flanking Active TSS	K562	blood
8	chr11:57004200-57005400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:57004200-57005400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:57004200-57005600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:57004200-57009200	Weak transcription	Gastric	stomach
12	chr11:57004400-57005200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:57004400-57005200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:57004400-57005200	Enhancers	Right Atrium	heart
15	chr11:57004400-57005200	Enhancers	HSMM	muscle
16	chr11:57004400-57006800	Weak transcription	Liver	Liver
17	chr11:57004600-57005200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:57004600-57005200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:57004600-57005200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:57004600-57005200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr11:57004600-57005200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:57004600-57005200	Enhancers	Colonic Mucosa	Colon
23	chr11:57004600-57005200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr11:57004600-57005200	Enhancers	Right Ventricle	heart
25	chr11:57004600-57005400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:57004600-57005600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:57004600-57006000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr11:57004600-57006200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:57004600-57007200	Weak transcription	Brain Anterior Caudate	brain
30	chr11:57004800-57005200	Enhancers	Fetal Muscle Leg	muscle
31	chr11:57004800-57005400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:57004800-57005400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr11:57004800-57005400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr11:57004800-57005600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:57004800-57005600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:57004800-57006000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:57004800-57006000	Enhancers	Spleen	Spleen
38	chr11:57004800-57007000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:57005000-57005200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr11:57005000-57005200	Enhancers	Adipose Nuclei	Adipose
41	chr11:57005000-57005200	Enhancers	Left Ventricle	heart
42	chr11:57005000-57005200	Enhancers	Psoas Muscle	Psoas
43	chr11:57005000-57005200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:57005000-57005200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr11:57005000-57005400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:57005000-57005400	Enhancers	Placenta	Placenta
47	chr11:57005000-57005600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr11:57005000-57005800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:57005000-57009200	Weak transcription	Fetal Lung	lung

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