Variant report

Variant	rs73469382
Chromosome Location	chr9:86573993-86573994
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr9:86573922-86574231	HepG2	liver:	n/a	n/a
2	TCF12	chr9:86573745-86574580	SK-N-SH	brain:	n/a	n/a
3	ESR1	chr9:86573986-86574367	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr9:86573979-86574299	Hela-S3	cervix:	n/a	n/a
5	FOS	chr9:86573981-86574256	MCF10A-Er-Src	breast:	n/a	n/a
6	PBX3	chr9:86573757-86574445	SK-N-SH	brain:	n/a	n/a
7	ESR1	chr9:86573942-86574315	ECC-1	luminal epithelium:	n/a	n/a
8	FOS	chr9:86573592-86574271	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr9:86573914-86574231	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:86573957-86574231	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr9:86573852-86574372	HepG2	liver:	n/a	n/a
12	EP300	chr9:86573931-86574466	ECC-1	luminal epithelium:	n/a	n/a
13	MAFK	chr9:86573910-86574249	IMR90	lung:	n/a	n/a
14	RCOR1	chr9:86573957-86574243	Hela-S3	cervix:	n/a	n/a
15	TCF12	chr9:86573863-86574564	SK-N-SH	brain:	n/a	n/a
16	FOS	chr9:86573958-86574277	MCF10A-Er-Src	breast:	n/a	n/a
17	RFX5	chr9:86573945-86574265	Hela-S3	cervix:	n/a	n/a
18	TEAD4	chr9:86573941-86574366	ECC-1	luminal epithelium:	n/a	n/a
19	TCF12	chr9:86573991-86574457	ECC-1	luminal epithelium:	n/a	n/a
20	NFIC	chr9:86573864-86574366	ECC-1	luminal epithelium:	n/a	n/a
21	PBX3	chr9:86573735-86574407	SK-N-SH	brain:	n/a	n/a
22	FOSL2	chr9:86573832-86574346	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr9:86573980-86574236	K562	blood:	n/a	n/a
24	MAFK	chr9:86573940-86574275	Hela-S3	cervix:	n/a	n/a
25	MAFF	chr9:86573946-86574152	HepG2	liver:	n/a	chr9:86574054-86574072
26	POLR2A	chr9:86573507-86574174	HepG2	liver:	n/a	n/a
27	JUND	chr9:86573908-86574739	SK-N-SH	brain:	n/a	chr9:86574094-86574105
28	TEAD4	chr9:86573883-86574425	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:86321564..86323208-chr9:86572109..86574436,2	MCF-7	breast:
2	chr9:86570737..86572270-chr9:86573976..86575561,2	K562	blood:
3	chr9:86534003..86537844-chr9:86570557..86574103,8	K562	blood:
4	chr9:86534503..86538702-chr9:86568820..86574555,7	MCF-7	breast:

No data

Variant related genes	Relation type
C9orf64	TF binding region
ENSG00000254473	Chromatin interaction
ENSG00000165118	Chromatin interaction
ENSG00000165115	Chromatin interaction
ENSG00000135018	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs57364890	1.00[AMR][1000 genomes]
rs57371575	1.00[AMR][1000 genomes]
rs57996505	1.00[AMR][1000 genomes]
rs58090060	1.00[AMR][1000 genomes]
rs59038995	1.00[AMR][1000 genomes]
rs59227663	1.00[AMR][1000 genomes]
rs59962995	1.00[AMR][1000 genomes]
rs60035746	1.00[AMR][1000 genomes]
rs60639174	1.00[AMR][1000 genomes]
rs60889426	1.00[AMR][1000 genomes]
rs61372781	1.00[AMR][1000 genomes]
rs61708723	1.00[AMR][1000 genomes]
rs6559755	1.00[AMR][1000 genomes]
rs6559759	1.00[AMR][1000 genomes]
rs7035469	1.00[AMR][1000 genomes]
rs7038536	1.00[AMR][1000 genomes]
rs73469353	1.00[AMR][1000 genomes]
rs73469354	1.00[AMR][1000 genomes]
rs73469361	1.00[AMR][1000 genomes]
rs73469367	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469373	1.00[AMR][1000 genomes]
rs73469375	1.00[AMR][1000 genomes]
rs73469388	1.00[AMR][1000 genomes]
rs73471355	1.00[AMR][1000 genomes]
rs73471356	1.00[AMR][1000 genomes]
rs73471359	1.00[AMR][1000 genomes]
rs73471374	1.00[AMR][1000 genomes]
rs73471377	1.00[AMR][1000 genomes]
rs73471381	1.00[AMR][1000 genomes]
rs73471387	1.00[AMR][1000 genomes]
rs73471388	1.00[AMR][1000 genomes]
rs73471390	1.00[AMR][1000 genomes]
rs73473366	1.00[AMR][1000 genomes]
rs73473369	1.00[AMR][1000 genomes]
rs73473371	1.00[AMR][1000 genomes]
rs7856484	1.00[AMR][1000 genomes]
rs7872631	1.00[AMR][1000 genomes]
rs7875551	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	esv3366490	chr9:86541369-86608868	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv1043703	chr9:86545917-86603545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86571800-86584600	Weak transcription	Spleen	Spleen
2	chr9:86572000-86577200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:86572000-86586200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:86572200-86576000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:86572200-86577000	Weak transcription	HMEC	breast
6	chr9:86572200-86577200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:86572200-86579800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:86572200-86581000	Weak transcription	Primary T cells from cord blood	blood
9	chr9:86572200-86581000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:86572200-86581200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:86572200-86581600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:86572200-86581800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:86572200-86581800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:86572200-86581800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:86572200-86582000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr9:86572200-86582000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:86572200-86584600	Weak transcription	Ovary	ovary
18	chr9:86572200-86586600	Weak transcription	Aorta	Aorta
19	chr9:86572200-86593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:86572400-86574000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:86572400-86574400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:86572400-86576800	Weak transcription	Placenta	Placenta
23	chr9:86572400-86577000	Weak transcription	Fetal Intestine Small	intestine
24	chr9:86572400-86577200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:86572400-86577200	Weak transcription	NH-A	brain
26	chr9:86572400-86580000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:86572400-86580600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:86572400-86580800	Weak transcription	Primary B cells from cord blood	blood
29	chr9:86572400-86581000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr9:86572400-86581000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:86572400-86581000	Weak transcription	Brain Germinal Matrix	brain
32	chr9:86572400-86581200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:86572400-86581200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:86572400-86581200	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:86572400-86581200	Weak transcription	Fetal Thymus	thymus
36	chr9:86572400-86581200	Weak transcription	Left Ventricle	heart
37	chr9:86572400-86581200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:86572400-86581200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:86572400-86581400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr9:86572400-86581400	Weak transcription	GM12878-XiMat	blood
41	chr9:86572400-86581400	Weak transcription	HUVEC	blood vessel
42	chr9:86572400-86581600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr9:86572400-86581600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr9:86572400-86581800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr9:86572400-86581800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr9:86572400-86581800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr9:86572400-86582000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr9:86572400-86582200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr9:86572400-86582200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr9:86572400-86582600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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