Variant report

Variant	esv3390661
Chromosome Location	chr9:92854836-92855168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:92219124..92221595-chr9:92854778..92859945,4	MCF-7	breast:
2	chr9:92219469..92221520-chr9:92854815..92856417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130222	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34877066	chr9:92854863-92854864	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34719799	chr9:92854869-92854870	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538841204	chr9:92854911-92854912	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12685614	chr9:92854922-92854923	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546643837	chr9:92854950-92854951	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370685118	chr9:92854952-92854953	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77646156	chr9:92854967-92854968	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369743272	chr9:92854972-92854973	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554894779	chr9:92855031-92855032	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574530205	chr9:92855034-92855035	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540188551	chr9:92855041-92855042	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553915697	chr9:92855067-92855068	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs629293	chr9:92855082-92855083	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs629291	chr9:92855088-92855089	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147308230	chr9:92855124-92855125	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114334624	chr9:92855133-92855134	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545605895	chr9:92855156-92855157	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92839200-92855200	Weak transcription	Pancreas	Pancrea
2	chr9:92848400-92858000	Weak transcription	Right Atrium	heart
3	chr9:92848800-92855000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:92848800-92857800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:92848800-92862200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:92849000-92856000	Weak transcription	Fetal Brain Female	brain
7	chr9:92851800-92855000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:92854200-92856200	Enhancers	Fetal Thymus	thymus
9	chr9:92854400-92855400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:92854400-92856200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:92854400-92856400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr9:92854600-92855200	Enhancers	Duodenum Mucosa	Duodenum
13	chr9:92854600-92855400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:92854600-92855800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:92854600-92856000	Enhancers	Dnd41	blood
16	chr9:92854600-92856200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr9:92854600-92856400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr9:92854800-92855200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:92854800-92855600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr9:92854800-92855600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:92854800-92855800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:92854800-92856000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr9:92854800-92856400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr9:92854800-92856400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr9:92855000-92855400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:92855000-92855400	Bivalent Enhancer	GM12878-XiMat	blood
27	chr9:92855000-92855600	Bivalent Enhancer	Thymus	Thymus
28	chr9:92855000-92855800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:92855000-92856000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:92855000-92856000	Enhancers	Fetal Muscle Trunk	muscle
31	chr9:92855000-92856200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:92855000-92856400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr9:92855000-92858000	Enhancers	Fetal Muscle Leg	muscle

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