Variant report

Variant	nsv982328
Chromosome Location	chr9:101369419-101371615
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	chr9:101259976..101262870-chr9:101371047..101374046,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550639213	chr9:101369419-101369420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113493231	chr9:101369422-101369423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11538080	chr9:101369454-101369455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573016760	chr9:101369559-101369560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541931662	chr9:101369563-101369564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77545309	chr9:101369568-101369569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575370595	chr9:101369586-101369587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544360048	chr9:101369595-101369596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142340869	chr9:101369638-101369639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533009474	chr9:101369639-101369640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151250762	chr9:101369654-101369655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183454882	chr9:101369672-101369673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529378130	chr9:101369701-101369702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187573541	chr9:101369718-101369719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569302428	chr9:101369776-101369777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74326515	chr9:101369792-101369793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74498704	chr9:101369858-101369859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190962050	chr9:101369862-101369863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534488336	chr9:101369967-101369968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571241936	chr9:101369985-101369986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571173714	chr9:101370006-101370007	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182114036	chr9:101370112-101370113	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558728102	chr9:101370142-101370143	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374674625	chr9:101370153-101370154	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149751478	chr9:101370211-101370212	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186755922	chr9:101370271-101370272	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146745959	chr9:101370275-101370276	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12377101	chr9:101370349-101370350	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs140390639	chr9:101370350-101370351	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533742635	chr9:101370373-101370374	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563068609	chr9:101370382-101370383	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145486426	chr9:101370406-101370407	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540117858	chr9:101370429-101370430	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559990017	chr9:101370438-101370439	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573716337	chr9:101370439-101370440	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146485822	chr9:101370446-101370447	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs149070759	chr9:101370464-101370465	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192659532	chr9:101370486-101370487	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542260499	chr9:101370586-101370587	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs143056527	chr9:101370592-101370593	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148193640	chr9:101370600-101370601	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs560532587	chr9:101370604-101370605	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553303259	chr9:101370608-101370609	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs111678325	chr9:101370638-101370639	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567924548	chr9:101370694-101370695	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs535452185	chr9:101370705-101370706	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548916100	chr9:101370739-101370740	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565345722	chr9:101370741-101370742	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs568904451	chr9:101370770-101370771	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs185046110	chr9:101370835-101370836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101364400-101371600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:101365400-101386800	Weak transcription	Brain Angular Gyrus	brain
3	chr9:101368800-101370000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:101369200-101370000	Enhancers	HUVEC	blood vessel
5	chr9:101369400-101370000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:101369600-101370600	Enhancers	NHLF	lung
7	chr9:101369800-101370200	Enhancers	Osteobl	bone
8	chr9:101370000-101370200	Flanking Active TSS	HUVEC	blood vessel
9	chr9:101370000-101370600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:101370000-101370600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:101370000-101370600	Enhancers	NH-A	brain
12	chr9:101370200-101370400	Enhancers	HUVEC	blood vessel
13	chr9:101370400-101370600	Enhancers	Fetal Lung	lung
14	chr9:101370400-101370800	Flanking Active TSS	HUVEC	blood vessel
15	chr9:101370600-101371400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:101370600-101372400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:101370600-101372600	Weak transcription	NH-A	brain
18	chr9:101370800-101371800	Weak transcription	Fetal Lung	lung
19	chr9:101370800-101373600	Enhancers	HUVEC	blood vessel
20	chr9:101371400-101375400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:101371600-101371800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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