Variant report

Variant	esv3377946
Chromosome Location	chr9:92923332-92926330
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	chr9:92921559..92924018-chr9:92927054..92929355,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566259993	chr9:92923338-92923339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538330880	chr9:92923339-92923340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558197210	chr9:92923405-92923406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577838042	chr9:92923414-92923415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187537024	chr9:92923426-92923427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114043063	chr9:92923427-92923428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72756924	chr9:92923431-92923432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115037945	chr9:92923442-92923443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559760445	chr9:92923444-92923445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528628047	chr9:92923446-92923447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375140520	chr9:92923487-92923488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545531754	chr9:92923489-92923490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72756925	chr9:92923490-92923491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530629710	chr9:92923493-92923494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555570411	chr9:92923531-92923532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116453002	chr9:92923542-92923543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115840589	chr9:92923549-92923550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567497770	chr9:92923550-92923551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529980566	chr9:92923575-92923576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191378914	chr9:92923581-92923582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566147099	chr9:92923582-92923583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538220301	chr9:92923583-92923584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117165893	chr9:92923594-92923595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568571803	chr9:92923596-92923597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537285828	chr9:92923646-92923647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557527834	chr9:92923673-92923674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141952963	chr9:92923702-92923703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574277321	chr9:92923773-92923774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564479503	chr9:92923774-92923775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536933541	chr9:92923835-92923836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374446272	chr9:92923841-92923842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79972835	chr9:92923848-92923849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184563481	chr9:92923854-92923855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72756927	chr9:92923920-92923921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72756928	chr9:92923921-92923922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565420540	chr9:92923939-92923940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112058173	chr9:92923978-92923979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544106467	chr9:92923993-92923994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561121478	chr9:92924012-92924013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529817930	chr9:92924041-92924042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560472467	chr9:92924044-92924045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74400889	chr9:92924052-92924053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189350212	chr9:92924091-92924092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115176225	chr9:92924106-92924107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568906269	chr9:92924108-92924109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531372979	chr9:92924117-92924118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537921568	chr9:92924133-92924134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376028432	chr9:92924221-92924222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550924572	chr9:92924304-92924305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117913960	chr9:92924317-92924318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92919000-92924600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:92920800-92924000	Weak transcription	Spleen	Spleen
3	chr9:92921200-92924600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:92921200-92924600	Weak transcription	Pancreas	Pancrea
5	chr9:92923600-92923800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:92923800-92924400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:92923800-92924600	Enhancers	Primary hematopoietic stem cells	blood
8	chr9:92923800-92925200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr9:92923800-92925600	Enhancers	Primary B cells from peripheral blood	blood
10	chr9:92924000-92924400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:92924000-92924800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr9:92924000-92925200	Enhancers	Spleen	Spleen
13	chr9:92924200-92924400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:92924600-92924800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:92924600-92924800	Enhancers	Duodenum Mucosa	Duodenum
16	chr9:92924600-92925000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:92924600-92925000	Active TSS	Fetal Heart	heart
18	chr9:92924600-92925200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:92924600-92925200	Enhancers	Esophagus	oesophagus
20	chr9:92924600-92925200	ZNF genes & repeats	Fetal Kidney	kidney
21	chr9:92924600-92925200	Enhancers	Pancreas	Pancrea
22	chr9:92924800-92925000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:92924800-92925000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:92924800-92925000	Enhancers	Colonic Mucosa	Colon
25	chr9:92924800-92925400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr9:92924800-92925600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr9:92924800-92925600	Enhancers	Stomach Mucosa	stomach
28	chr9:92924800-92925800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr9:92925000-92925400	Enhancers	Primary B cells from cord blood	blood
30	chr9:92925000-92925400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:92925000-92925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:92925000-92925600	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr9:92925000-92928800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:92925000-92929000	Weak transcription	Colonic Mucosa	Colon
35	chr9:92925200-92925400	Enhancers	Primary hematopoietic stem cells	blood
36	chr9:92925200-92927600	Weak transcription	Pancreas	Pancrea
37	chr9:92925200-92928800	Weak transcription	Fetal Kidney	kidney
38	chr9:92925200-92933200	Weak transcription	Esophagus	oesophagus
39	chr9:92925400-92930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:92925600-92926000	Enhancers	Duodenum Mucosa	Duodenum
41	chr9:92925600-92927600	Weak transcription	Fetal Intestine Large	intestine
42	chr9:92925600-92930000	Weak transcription	Stomach Mucosa	stomach
43	chr9:92925800-92927600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:92926000-92927600	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links