Variant report

Variant	rs544080133
Chromosome Location	chr9:115984951-115984952
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	HEY1	chr9:115984620-115985273	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:115984718-115985233	HepG2	liver:	n/a	n/a
3	TBP	chr9:115984736-115985172	HepG2	liver:	n/a	n/a
4	FOS	chr9:115984839-115985103	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr9:115982891-115985189	Hela-S3	cervix:	n/a	chr9:115983813-115983823
6	CEBPB	chr9:115984798-115985171	HepG2	liver:	n/a	chr9:115984988-115984999
7	POLR2A	chr9:115983152-115985096	Hela-S3	cervix:	n/a	n/a
8	UBTF	chr9:115984939-115985075	K562	blood:	n/a	n/a
9	MYC	chr9:115984204-115984971	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr9:115983036-115984989	PFSK-1	brain:	n/a	n/a
11	GATA1	chr9:115983220-115984966	PBDE	blood:	n/a	chr9:115984689-115984697 chr9:115983235-115983243 chr9:115984786-115984794 chr9:115984413-115984422
12	ELK4	chr9:115984794-115985147	Hela-S3	cervix:	n/a	n/a
13	HNF4A	chr9:115984787-115985122	HepG2	liver:	n/a	chr9:115984933-115984948 chr9:115984934-115984947 chr9:115984933-115984948 chr9:115984934-115984948 chr9:115984934-115984946 chr9:115984935-115984947 chr9:115984935-115984948 chr9:115984933-115984948 chr9:115984933-115984948 chr9:115984935-115984947 chr9:115984933-115984948 chr9:115984933-115984948
14	MAX	chr9:115984312-115985099	K562	blood:	n/a	n/a
15	MAZ	chr9:115983047-115985166	IMR90	lung:	n/a	chr9:115983813-115983823
16	IRF1	chr9:115983330-115985086	K562	blood:	n/a	chr9:115985014-115985035 chr9:115983757-115983771 chr9:115983432-115983446
17	NR2F2	chr9:115982813-115984988	K562	blood:	n/a	n/a
18	TBP	chr9:115982984-115985238	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr9:115981681-115985060	SK-N-SH	brain:	n/a	n/a
20	IRF1	chr9:115984880-115985189	K562	blood:	n/a	chr9:115985014-115985035
21	TAL1	chr9:115984343-115984977	K562	blood:	n/a	n/a
22	JUN	chr9:115984809-115985150	HepG2	liver:	n/a	chr9:115984985-115984998
23	CEBPB	chr9:115984817-115985170	A549	lung:	n/a	chr9:115984988-115984999
24	WRNIP1	chr9:115984461-115985225	GM12878	blood:	n/a	n/a
25	ZNF384	chr9:115984931-115984984	GM12878	blood:	n/a	n/a
26	JUND	chr9:115983337-115985168	K562	blood:	n/a	chr9:115983457-115983467 chr9:115983731-115983740
27	CEBPB	chr9:115984825-115985189	IMR90	lung:	n/a	chr9:115984988-115984999
28	CEBPB	chr9:115984886-115985075	HepG2	liver:	n/a	chr9:115984988-115984999
29	FOS	chr9:115984942-115985159	MCF10A-Er-Src	breast:	n/a	n/a
30	TEAD4	chr9:115984295-115985173	K562	blood:	n/a	n/a
31	CEBPB	chr9:115984815-115985213	K562	blood:	n/a	chr9:115984988-115984999
32	MAZ	chr9:115983273-115985041	K562	blood:	n/a	chr9:115983813-115983823
33	CEBPB	chr9:115984771-115985177	HepG2	liver:	n/a	chr9:115984988-115984999
34	RCOR1	chr9:115983960-115985116	K562	blood:	n/a	n/a
35	HNF4G	chr9:115984775-115985126	HepG2	liver:	n/a	chr9:115984933-115984948 chr9:115984934-115984947 chr9:115984933-115984948 chr9:115984934-115984948 chr9:115984934-115984949 chr9:115984934-115984946 chr9:115984935-115984947 chr9:115984935-115984948 chr9:115984933-115984948 chr9:115984933-115984948 chr9:115984935-115984947 chr9:115984933-115984948
36	CEBPB	chr9:115984809-115985177	HepG2	liver:	n/a	chr9:115984988-115984999
37	POLR2A	chr9:115982355-115985172	IMR90	lung:	n/a	n/a
38	TBP	chr9:115984558-115984982	K562	blood:	n/a	n/a
39	CEBPB	chr9:115984795-115985198	Hela-S3	cervix:	n/a	chr9:115984988-115984999
40	JUND	chr9:115984835-115985125	HepG2	liver:	n/a	n/a
41	POLR2A	chr9:115983195-115985019	HepG2	liver:	n/a	n/a
42	FOS	chr9:115984906-115985092	MCF10A-Er-Src	breast:	n/a	n/a
43	IRF1	chr9:115984590-115985100	K562	blood:	n/a	chr9:115985014-115985035
44	SPI1	chr9:115984919-115985099	K562	blood:	n/a	n/a
45	POLR2A	chr9:115984855-115985123	HepG2	liver:	n/a	n/a
46	POLR2A	chr9:115983304-115985212	HepG2	liver:	n/a	n/a
47	MYC	chr9:115982983-115985199	K562	blood:	n/a	chr9:115983813-115983823
48	GTF2F1	chr9:115984381-115985144	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr9:115984752-115985115	MCF10A-Er-Src	breast:	n/a	n/a
50	MAFK	chr9:115984842-115985121	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:115981728..115986983-chr9:116035777..116040437,9	K562	blood:
2	chr9:115980360..115986264-chr9:116170629..116175189,6	K562	blood:
3	chr9:115983607..115986374-chr9:116170251..116172763,3	MCF-7	breast:
4	chr9:115981852..115985156-chr9:116171660..116173942,3	MCF-7	breast:
5	chr9:115982005..115986983-chr9:116035777..116039702,5	K562	blood:
6	chr9:115983488..115985496-chr9:116035418..116038927,3	MCF-7	breast:

Variant related genes	Relation type
FKBP15	TF binding region
ENSG00000148229	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000176386	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv893745	chr9:115955271-116005783	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1041112	chr9:115960704-116005783	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv893746	chr9:115983540-116022826	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115981200-115985600	Active TSS	GM12878-XiMat	blood
2	chr9:115982000-115985000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr9:115982000-115985000	Active TSS	Aorta	Aorta
4	chr9:115982200-115985000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:115982200-115985200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:115982200-115985400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:115982200-115985600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:115982400-115985000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr9:115982400-115985200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:115982400-115985400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr9:115982400-115985400	Active TSS	HSMMtube	muscle
12	chr9:115982600-115985000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:115982600-115985600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:115982800-115985000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:115982800-115985000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:115982800-115985200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:115982800-115985200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:115982800-115985200	Active TSS	Lung	lung
19	chr9:115982800-115985200	Bivalent/Poised TSS	HepG2	liver
20	chr9:115983200-115985200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:115984000-115985000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr9:115984000-115985000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:115984200-115985000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr9:115984200-115985000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr9:115984200-115985000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr9:115984200-115985000	Flanking Active TSS	Fetal Brain Male	brain
27	chr9:115984200-115985000	Flanking Active TSS	Fetal Brain Female	brain
28	chr9:115984200-115985000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr9:115984200-115985200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:115984200-115985200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr9:115984200-115985200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr9:115984200-115985200	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr9:115984200-115985200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr9:115984200-115985200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr9:115984200-115985200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr9:115984200-115985200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr9:115984200-115985200	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr9:115984200-115985200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr9:115984200-115985200	Flanking Active TSS	Dnd41	blood
40	chr9:115984200-115985200	Flanking Active TSS	HUVEC	blood vessel
41	chr9:115984200-115985400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr9:115984200-115985800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr9:115984400-115985000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:115984400-115985000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:115984400-115985000	Enhancers	Primary B cells from peripheral blood	blood
46	chr9:115984400-115985000	Flanking Active TSS	Fetal Stomach	stomach
47	chr9:115984400-115985000	Flanking Active TSS	Gastric	stomach
48	chr9:115984400-115985000	Flanking Active TSS	Pancreas	Pancrea
49	chr9:115984400-115985000	Flanking Active TSS	Thymus	Thymus
50	chr9:115984400-115985200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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