Variant report

Variant	nsv466305
Chromosome Location	chr9:24605821-24651946
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	chr9:24613953..24614528-chr9:25350122..25350850,2	MCF-7	breast:

Extended variants
information (count: 699 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1162608	chr9:24605821-24605822	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs16908590	chr9:24605850-24605851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573185456	chr9:24605918-24605919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189525114	chr9:24605924-24605925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561689022	chr9:24605957-24605958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530554638	chr9:24605980-24605981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548856865	chr9:24606006-24606007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151296479	chr9:24606008-24606009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532840129	chr9:24606016-24606017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141780841	chr9:24606042-24606043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565899154	chr9:24606062-24606063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570204101	chr9:24606128-24606129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528778849	chr9:24606186-24606187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145843658	chr9:24606199-24606200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568401749	chr9:24606206-24606207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537496342	chr9:24606208-24606209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538526758	chr9:24606212-24606213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537471933	chr9:24606243-24606244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192802872	chr9:24606255-24606256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552116675	chr9:24606272-24606273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539509311	chr9:24606283-24606284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2779101	chr9:24606302-24606303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs59984102	chr9:24606317-24606318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536914290	chr9:24606325-24606326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367994637	chr9:24606349-24606350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542023904	chr9:24606366-24606367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555740342	chr9:24606430-24606431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16908593	chr9:24606439-24606440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183694131	chr9:24606450-24606451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563885252	chr9:24606455-24606456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533061620	chr9:24606464-24606465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553595561	chr9:24606476-24606477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539919568	chr9:24606485-24606486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559790968	chr9:24606509-24606510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572196678	chr9:24606581-24606582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138740672	chr9:24606603-24606604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189597178	chr9:24606628-24606629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141080119	chr9:24606655-24606656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114496565	chr9:24606682-24606683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73653940	chr9:24606685-24606686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550962915	chr9:24606693-24606694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181967985	chr9:24606700-24606701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570723213	chr9:24606778-24606779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539944173	chr9:24606781-24606782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150297655	chr9:24606836-24606837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566960813	chr9:24606862-24606863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535693699	chr9:24606886-24606887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186340864	chr9:24606897-24606898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575502919	chr9:24606977-24606978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115568477	chr9:24607017-24607018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24604400-24608600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:24607200-24608000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:24608000-24615800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:24608600-24609000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:24613800-24614200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:24614000-24614600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:24615800-24617000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:24615800-24617200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:24616400-24616600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:24620600-24621800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr9:24624800-24625200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:24648400-24650200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:24648600-24650000	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr9:24649600-24650000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:24649600-24650000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:24649600-24650000	ZNF genes & repeats	Pancreas	Pancrea

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