Variant report

Variant	nsv613380
Chromosome Location	chr9:10391459-10424164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 340 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10809084	chr9:10391459-10391460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141512394	chr9:10391518-10391519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562841596	chr9:10391527-10391528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555275561	chr9:10391546-10391547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540787517	chr9:10391547-10391548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547183760	chr9:10391571-10391572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560656100	chr9:10391573-10391574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114982953	chr9:10391574-10391575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10756031	chr9:10391604-10391605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs377462139	chr9:10391636-10391637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530390777	chr9:10391705-10391706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560886557	chr9:10391721-10391722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181368172	chr9:10391761-10391762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114134699	chr9:10391763-10391764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74736612	chr9:10391785-10391786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566309050	chr9:10391820-10391821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372811171	chr9:10391846-10391847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538863457	chr9:10391897-10391898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185939870	chr9:10391902-10391903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371211396	chr9:10391931-10391932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569357232	chr9:10391983-10391984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10733206	chr9:10391984-10391985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370731947	chr9:10392000-10392001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538807161	chr9:10392029-10392030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546815315	chr9:10392039-10392040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558787806	chr9:10392120-10392121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145364377	chr9:10392155-10392156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189182855	chr9:10392160-10392161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1853452	chr9:10392168-10392169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577351114	chr9:10392182-10392183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546393638	chr9:10392195-10392196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1853451	chr9:10392230-10392231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575300364	chr9:10392261-10392262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77175795	chr9:10392264-10392265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367711003	chr9:10392357-10392358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371797838	chr9:10392364-10392365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560549343	chr9:10392411-10392412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182251249	chr9:10392439-10392440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73644446	chr9:10392453-10392454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185995520	chr9:10392559-10392560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532182369	chr9:10392595-10392596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147741872	chr9:10392610-10392611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536513411	chr9:10392665-10392666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190958038	chr9:10392684-10392685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548743693	chr9:10392685-10392686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183234527	chr9:10392701-10392702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149226449	chr9:10392706-10392707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554471118	chr9:10392754-10392755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571143844	chr9:10392762-10392763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539598138	chr9:10392775-10392776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10387800-10395800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:10395800-10396000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:10395800-10396200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr9:10396000-10397200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:10396600-10397000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:10397200-10397400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:10397200-10398000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:10398800-10399200	Enhancers	Fetal Heart	heart

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