Variant report

Variant	esv3369704
Chromosome Location	chr9:96196089-96196606
allele	n/a
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	MAFF	chr9:96196366-96196696	HepG2	liver:	n/a	chr9:96196525-96196539 chr9:96196519-96196537
2	MAFF	chr9:96196385-96196686	K562	blood:	n/a	chr9:96196525-96196539 chr9:96196519-96196537
3	MAFK	chr9:96196372-96196702	HepG2	liver:	n/a	chr9:96196524-96196540 chr9:96196522-96196542 chr9:96196525-96196539
4	MAFK	chr9:96196372-96196685	Hela-S3	cervix:	n/a	chr9:96196524-96196540 chr9:96196522-96196542 chr9:96196525-96196539
5	MAFK	chr9:96196353-96196679	K562	blood:	n/a	chr9:96196524-96196540 chr9:96196522-96196542 chr9:96196525-96196539
6	MAFK	chr9:96196368-96196712	IMR90	lung:	n/a	chr9:96196524-96196540 chr9:96196522-96196542 chr9:96196525-96196539
7	MAFK	chr9:96196435-96196646	H1-hESC	embryonic stem cell:	n/a	chr9:96196524-96196540 chr9:96196522-96196542 chr9:96196525-96196539
8	MAFK	chr9:96196349-96196717	HepG2	liver:	n/a	chr9:96196524-96196540 chr9:96196522-96196542 chr9:96196525-96196539
9	POLR2A	chr9:96196173-96196521	MCF10A-Er-Src	breast:	n/a	n/a
10	ZNF384	chr9:96196363-96196396	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96194036..96195679-chr9:96195790..96198245,2	MCF-7	breast:
2	chr9:96194892..96196577-chr9:96200369..96203160,3	K562	blood:
3	chr9:96191335..96193739-chr9:96195516..96197306,2	K562	blood:

Variant related genes	Relation type
ENSG00000237385	TF binding region
ENSG00000237385	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397704832	chr9:96196093-96196094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529670767	chr9:96196129-96196130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11789176	chr9:96196166-96196167	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs188260733	chr9:96196167-96196168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557847589	chr9:96196177-96196178	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547005868	chr9:96196180-96196181	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568600630	chr9:96196181-96196182	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192710072	chr9:96196256-96196257	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144956247	chr9:96196290-96196291	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201737805	chr9:96196341-96196342	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184829860	chr9:96196350-96196351	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190378621	chr9:96196364-96196365	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372078287	chr9:96196420-96196421	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577749986	chr9:96196449-96196450	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373631204	chr9:96196455-96196456	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138805448	chr9:96196493-96196494	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96185800-96208200	Weak transcription	Gastric	stomach
2	chr9:96186000-96208200	Weak transcription	Pancreas	Pancrea
3	chr9:96186600-96208200	Weak transcription	Lung	lung
4	chr9:96190600-96196600	Weak transcription	Placenta	Placenta
5	chr9:96193000-96196600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:96194000-96207800	Weak transcription	Thymus	Thymus
7	chr9:96194200-96207600	Weak transcription	Primary T cells from cord blood	blood
8	chr9:96194400-96196600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:96194400-96208000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr9:96194400-96208000	Weak transcription	Fetal Intestine Large	intestine
11	chr9:96194400-96208400	Weak transcription	Fetal Intestine Small	intestine
12	chr9:96194400-96208400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:96194400-96208400	Weak transcription	Small Intestine	intestine
14	chr9:96194400-96208800	Weak transcription	Brain Anterior Caudate	brain
15	chr9:96194400-96209200	Weak transcription	Fetal Kidney	kidney
16	chr9:96194600-96208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:96195400-96198600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:96195400-96208200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr9:96195400-96208200	Weak transcription	Left Ventricle	heart
20	chr9:96195600-96196200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:96195600-96207800	Weak transcription	GM12878-XiMat	blood
22	chr9:96195600-96208400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:96196200-96196800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:96196400-96196800	Enhancers	Fetal Lung	lung
25	chr9:96196600-96196800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:96196600-96196800	Enhancers	Placenta	Placenta
27	chr9:96196600-96197000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:96196600-96197000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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