Variant report

Variant	nsv523889
Chromosome Location	chr9:107980321-107981571
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	chr9:107979211..107982587-chr9:107983640..107987366,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs378716	chr9:107980321-107980322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs41366646	chr9:107980349-107980350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538179333	chr9:107980394-107980395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10120310	chr9:107980453-107980454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568627631	chr9:107980496-107980497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536269244	chr9:107980503-107980504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10991590	chr9:107980511-107980512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112448450	chr9:107980513-107980514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554222281	chr9:107980570-107980571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572984260	chr9:107980606-107980607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540321756	chr9:107980633-107980634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149156803	chr9:107980654-107980655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527313457	chr9:107980668-107980669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372534344	chr9:107980724-107980725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73508543	chr9:107980725-107980726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541335488	chr9:107980729-107980730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577096013	chr9:107980769-107980770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544040928	chr9:107980798-107980799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562822098	chr9:107980833-107980834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529898656	chr9:107980843-107980844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542215265	chr9:107980920-107980921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58799771	chr9:107980925-107980926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143355464	chr9:107980954-107980955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527824290	chr9:107980999-107981000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560693713	chr9:107981022-107981023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71494508	chr9:107981061-107981062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369504733	chr9:107981175-107981176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570748590	chr9:107981201-107981202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72742560	chr9:107981218-107981219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113295426	chr9:107981231-107981232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550081138	chr9:107981283-107981284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568740372	chr9:107981311-107981312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143252598	chr9:107981343-107981344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147113971	chr9:107981393-107981394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34557228	chr9:107981421-107981422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12343137	chr9:107981430-107981431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138513254	chr9:107981437-107981438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533907754	chr9:107981478-107981479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560326399	chr9:107981517-107981518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558701634	chr9:107981518-107981519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74741622	chr9:107981525-107981526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs423477	chr9:107981571-107981572	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:63)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:107979200-107981800	Weak transcription	Osteobl	bone
2	chr9:107979200-107983200	Weak transcription	Fetal Brain Male	brain
3	chr9:107979400-107980800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:107979400-107981000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:107979600-107980800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:107979600-107981000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:107979600-107981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:107979800-107981200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:107980000-107989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:107980200-107980600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:107980200-107980600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:107980600-107983000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:107980800-107982200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:107981000-107981200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:107981000-107982200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:107981000-107982200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:107981200-107982000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:107981200-107982200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:107981400-107982200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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