Variant report

Variant	nsv515158
Chromosome Location	chr9:92723012-92723556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:92722728..92724376-chr9:92724584..92726100,2	MCF-7	breast:
2	chr9:92717917..92719509-chr9:92721861..92724237,2	MCF-7	breast:
3	chr9:92710212..92712786-chr9:92722735..92725255,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137987120	chr9:92723088-92723089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10993172	chr9:92723125-92723126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10993173	chr9:92723165-92723166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188225089	chr9:92723168-92723169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10993174	chr9:92723174-92723175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116649864	chr9:92723237-92723238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561782111	chr9:92723291-92723292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527651518	chr9:92723329-92723330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372375915	chr9:92723340-92723341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564376992	chr9:92723369-92723370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191767967	chr9:92723378-92723379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538606344	chr9:92723423-92723424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112452305	chr9:92723441-92723442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7850391	chr9:92723456-92723457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563590640	chr9:92723458-92723459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571863987	chr9:92723487-92723488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542441251	chr9:92723489-92723490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11461299	chr9:92723495-92723496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374972362	chr9:92723539-92723540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386736161	chr9:92723540-92723541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76087732	chr9:92723541-92723542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77488952	chr9:92723542-92723543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143464992	chr9:92723552-92723553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13284069	chr9:92723553-92723554	Weak transcription Enhancers	n/a	n/a	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92706000-92723600	Weak transcription	HSMMtube	muscle
2	chr9:92716800-92723200	Weak transcription	Pancreas	Pancrea
3	chr9:92716800-92724000	Weak transcription	Esophagus	oesophagus
4	chr9:92717000-92724200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:92718200-92723600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:92718400-92724000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:92719400-92723400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:92719600-92724200	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:92719800-92723600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:92719800-92723800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:92720600-92724000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:92721200-92723800	Weak transcription	NHDF-Ad	bronchial
13	chr9:92722600-92725400	Enhancers	Fetal Muscle Leg	muscle
14	chr9:92723000-92724000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:92723200-92724400	Enhancers	Pancreas	Pancrea
16	chr9:92723400-92723600	Enhancers	Fetal Intestine Large	intestine
17	chr9:92723400-92723800	Enhancers	Colonic Mucosa	Colon
18	chr9:92723400-92724000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr9:92723400-92724000	Enhancers	HSMM	muscle
20	chr9:92723400-92724200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr9:92723400-92724200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr9:92723400-92724200	Enhancers	Rectal Smooth Muscle	rectum
23	chr9:92723400-92724800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr9:92723400-92725000	Enhancers	Fetal Intestine Small	intestine
25	chr9:92723400-92725200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:92723400-92725600	Enhancers	Lung	lung
27	chr9:92723400-92725800	Enhancers	Spleen	Spleen

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