Variant report

Variant	esv3378179
Chromosome Location	chr9:93754853-93755231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:93755138-93755331	HepG2	liver:	n/a	n/a
2	ATF3	chr9:93754947-93755426	A549	lung:	n/a	n/a
3	BCL3	chr9:93754914-93755491	A549	lung:	n/a	n/a
4	BCL3	chr9:93754963-93755426	A549	lung:	n/a	n/a
5	CBX3	chr9:93754944-93755524	HCT-116	colon:	n/a	n/a
6	CEBPB	chr9:93754982-93755400	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr9:93755009-93755386	A549	lung:	n/a	n/a
8	CEBPB	chr9:93754989-93755399	IMR90	lung:	n/a	n/a
9	CEBPB	chr9:93754796-93755548	HCT-116	colon:	n/a	n/a
10	CEBPB	chr9:93754948-93755412	A549	lung:	n/a	n/a
11	CEBPB	chr9:93754894-93755511	HCT-116	colon:	n/a	n/a
12	CEBPB	chr9:93754910-93755508	A549	lung:	n/a	n/a
13	CHD2	chr9:93755047-93755362	Hela-S3	cervix:	n/a	n/a
14	E2F4	chr9:93755118-93755389	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr9:93754848-93755546	A549	lung:	n/a	n/a
16	EP300	chr9:93754916-93755508	SK-N-SH	brain:	n/a	n/a
17	EP300	chr9:93755068-93755384	HepG2	liver:	n/a	n/a
18	EP300	chr9:93755018-93755598	SK-N-SH	brain:	n/a	n/a
19	EP300	chr9:93754078-93755612	A549	lung:	n/a	n/a
20	EP300	chr9:93754992-93755374	Hela-S3	cervix:	n/a	n/a
21	FOS	chr9:93754396-93755454	MCF10A-Er-Src	breast:	n/a	chr9:93755212-93755223
22	FOS	chr9:93754938-93755429	HUVEC	blood vessel:	n/a	chr9:93755212-93755223
23	FOS	chr9:93754722-93755441	MCF10A-Er-Src	breast:	n/a	chr9:93755212-93755223
24	FOS	chr9:93755003-93755438	MCF10A-Er-Src	breast:	n/a	chr9:93755212-93755223
25	FOS	chr9:93754894-93755443	MCF10A-Er-Src	breast:	n/a	chr9:93755212-93755223
26	FOS	chr9:93755035-93755414	Hela-S3	cervix:	n/a	chr9:93755212-93755223
27	FOSL1	chr9:93754891-93755553	HCT-116	colon:	n/a	n/a
28	FOSL1	chr9:93754806-93755545	HCT-116	colon:	n/a	n/a
29	FOSL2	chr9:93754258-93755562	A549	lung:	n/a	n/a
30	FOSL2	chr9:93754908-93755524	SK-N-SH	brain:	n/a	n/a
31	FOSL2	chr9:93754971-93755395	MCF-7	breast:	n/a	n/a
32	FOSL2	chr9:93754952-93755432	SK-N-SH	brain:	n/a	n/a
33	FOSL2	chr9:93754961-93755427	A549	lung:	n/a	n/a
34	FOXA2	chr9:93754881-93755494	A549	lung:	n/a	n/a
35	GABPA	chr9:93755050-93755439	A549	lung:	n/a	n/a
36	GABPA	chr9:93754992-93755470	A549	lung:	n/a	n/a
37	GATA2	chr9:93754853-93755406	HUVEC	blood vessel:	n/a	n/a
38	GATA3	chr9:93754907-93755474	A549	lung:	n/a	n/a
39	GATA3	chr9:93754754-93755585	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr9:93755099-93755381	MCF-7	breast:	n/a	n/a
41	GATA3	chr9:93754075-93755660	A549	lung:	n/a	n/a
42	GATA3	chr9:93754834-93755513	SK-N-SH	brain:	n/a	n/a
43	JUN	chr9:93754724-93755355	Hela-S3	cervix:	n/a	n/a
44	JUN	chr9:93754997-93755404	HUVEC	blood vessel:	n/a	n/a
45	JUN	chr9:93755127-93755318	HepG2	liver:	n/a	n/a
46	JUND	chr9:93755045-93755428	A549	lung:	n/a	n/a
47	JUND	chr9:93754904-93755534	SK-N-SH	brain:	n/a	n/a
48	JUND	chr9:93754880-93755489	HCT-116	colon:	n/a	n/a
49	JUND	chr9:93755085-93755281	HepG2	liver:	n/a	n/a
50	JUND	chr9:93754853-93755420	HCT-116	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93726945..93729770-chr9:93753086..93755421,2	MCF-7	breast:
2	chr9:93748152..93750043-chr9:93753873..93756250,2	MCF-7	breast:
3	chr9:93740191..93743980-chr9:93753139..93756785,4	MCF-7	breast:
4	chr9:93752121..93756766-chr9:93756926..93762091,5	MCF-7	breast:
5	chr9:93699190..93702155-chr9:93754434..93756320,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260454	TF binding region
ENSG00000260454	chromatin interactions
ENSG00000228216	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531669493	chr9:93754878-93754879	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs578105727	chr9:93754894-93754895	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543596666	chr9:93754905-93754906	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553939846	chr9:93754990-93754991	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs80031897	chr9:93755009-93755010	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143522085	chr9:93755068-93755069	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534897638	chr9:93755106-93755107	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148134213	chr9:93755115-93755116	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559754426	chr9:93755122-93755123	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369370350	chr9:93755142-93755143	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372791044	chr9:93755150-93755151	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs296734	chr9:93755197-93755198	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93752400-93755200	Enhancers	Liver	Liver
2	chr9:93753600-93755000	Enhancers	NHDF-Ad	bronchial
3	chr9:93753800-93755000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:93753800-93755000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:93753800-93755000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:93753800-93755000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:93753800-93755000	Enhancers	HMEC	breast
8	chr9:93753800-93755000	Enhancers	NHLF	lung
9	chr9:93753800-93755200	Enhancers	Hela-S3	cervix
10	chr9:93753800-93755200	Enhancers	Osteobl	bone
11	chr9:93753800-93755400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:93753800-93755600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:93753800-93755600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:93754000-93755000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:93754000-93755200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr9:93754000-93755200	Enhancers	HSMM	muscle
17	chr9:93754000-93755200	Enhancers	HSMMtube	muscle
18	chr9:93754000-93755600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:93754000-93755600	Enhancers	HUVEC	blood vessel
20	chr9:93754000-93755600	Enhancers	NH-A	brain
21	chr9:93754200-93755000	Enhancers	HepG2	liver
22	chr9:93754200-93755200	Enhancers	NHEK	skin
23	chr9:93754400-93755000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:93754400-93755200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:93754600-93755000	Flanking Active TSS	A549	lung
26	chr9:93754600-93755200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr9:93754800-93755000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:93754800-93756400	Weak transcription	Adipose Nuclei	Adipose
29	chr9:93754800-93757600	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:93754800-93758000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:93754800-93763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:93755000-93755600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:93755000-93758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:93755000-93758000	Weak transcription	NHDF-Ad	bronchial
35	chr9:93755000-93758200	Weak transcription	NHLF	lung
36	chr9:93755000-93760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:93755000-93760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:93755000-93760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:93755000-93760800	Weak transcription	HMEC	breast
40	chr9:93755000-93761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:93755200-93758600	Weak transcription	Liver	Liver
42	chr9:93755200-93760600	Weak transcription	Hela-S3	cervix

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