Variant report

Variant	nsv466263
Chromosome Location	chr9:15641279-15726057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:15510294..15512690-chr9:15720146..15721868,2	MCF-7	breast:
2	chr9:15690406..15691946-chr9:15692582..15695063,2	MCF-7	breast:
3	chr9:15690406..15691946-chr9:15692582..15695063,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164985	chromatin interactions

Extended variants
information (count: 4107 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4107 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2175082	chr9:15641279-15641280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529052942	chr9:15641284-15641285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550755742	chr9:15641324-15641325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187187225	chr9:15641338-15641339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2382536	chr9:15641347-15641348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551777725	chr9:15641348-15641349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56109907	chr9:15641352-15641353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534199235	chr9:15641357-15641358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556067431	chr9:15641407-15641408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557981282	chr9:15641417-15641418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567950230	chr9:15641427-15641428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538012045	chr9:15641434-15641435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184386921	chr9:15641443-15641444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371902053	chr9:15641458-15641459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187758404	chr9:15641499-15641500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375081314	chr9:15641509-15641510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545914487	chr9:15641512-15641513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149443695	chr9:15641525-15641526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572472850	chr9:15641526-15641527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577904634	chr9:15641535-15641536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192233085	chr9:15641549-15641550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371810860	chr9:15641582-15641583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561603234	chr9:15641635-15641636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185819793	chr9:15641696-15641697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544067402	chr9:15641727-15641728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562751247	chr9:15641736-15641737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533252395	chr9:15641738-15641739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373337777	chr9:15641745-15641746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566991363	chr9:15641788-15641789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527638429	chr9:15641791-15641792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375458856	chr9:15641803-15641804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549406053	chr9:15641825-15641826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115063006	chr9:15641830-15641831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144834653	chr9:15641842-15641843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34391274	chr9:15641855-15641856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556457248	chr9:15641884-15641885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568510662	chr9:15641887-15641888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563353750	chr9:15641899-15641900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573701380	chr9:15641936-15641937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148517325	chr9:15641948-15641949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538866162	chr9:15641960-15641961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200826946	chr9:15641964-15641965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1848582	chr9:15641978-15641979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572609663	chr9:15641990-15641991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146051239	chr9:15642007-15642008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377230839	chr9:15642016-15642017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1848583	chr9:15642021-15642022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573850066	chr9:15642042-15642043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544527908	chr9:15642047-15642048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143651928	chr9:15642062-15642063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15614400-15645000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:15640600-15641600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:15640800-15643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:15641200-15641600	Enhancers	Stomach Mucosa	stomach
5	chr9:15641200-15642200	Enhancers	HepG2	liver
6	chr9:15643800-15645600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:15644600-15645200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:15645000-15645600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr9:15645000-15645600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:15645600-15689200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:15651400-15660400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:15652200-15666200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:15652400-15652800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:15652800-15654200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:15654200-15655000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:15655000-15658200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:15655200-15691600	Weak transcription	Thymus	Thymus
18	chr9:15657000-15659400	Weak transcription	Adipose Nuclei	Adipose
19	chr9:15658200-15660800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:15659000-15659200	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr9:15659200-15660800	Weak transcription	Brain Anterior Caudate	brain
22	chr9:15660400-15660800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr9:15660800-15666000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:15660800-15666200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:15662000-15662800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr9:15666000-15667200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:15666200-15666800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:15666200-15667000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:15666800-15671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:15667000-15670800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:15667200-15670800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:15669000-15720800	Weak transcription	Gastric	stomach
33	chr9:15669200-15676400	Weak transcription	Pancreas	Pancrea
34	chr9:15670000-15671200	Enhancers	GM12878-XiMat	blood
35	chr9:15670800-15671000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr9:15670800-15671600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:15671600-15672000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:15671600-15673000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:15672000-15688600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:15673000-15674000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:15674000-15675800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:15675000-15699000	Weak transcription	Left Ventricle	heart
43	chr9:15675800-15676200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:15676200-15676800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:15676400-15676600	ZNF genes & repeats	Pancreas	Pancrea
46	chr9:15676400-15688600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:15676600-15725000	Weak transcription	Pancreas	Pancrea
48	chr9:15676800-15678200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:15677000-15695200	Weak transcription	Fetal Thymus	thymus
50	chr9:15678200-15680000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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