Variant report

Variant	nsv969747
Chromosome Location	chr9:8602441-8606501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568518239	chr9:8602453-8602454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371529822	chr9:8602457-8602458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7031127	chr9:8602483-8602484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565083939	chr9:8602504-8602505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145209820	chr9:8602522-8602523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201760824	chr9:8602523-8602524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200032351	chr9:8602525-8602526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79232401	chr9:8602527-8602528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35278499	chr9:8602559-8602560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114901465	chr9:8602585-8602586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571735501	chr9:8602604-8602605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550899599	chr9:8602607-8602608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539030061	chr9:8602635-8602636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1415725	chr9:8602639-8602640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575929020	chr9:8602664-8602665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374504736	chr9:8602667-8602668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543306745	chr9:8602696-8602697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76617886	chr9:8602747-8602748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116874443	chr9:8602771-8602772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555474869	chr9:8602813-8602814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568839147	chr9:8602832-8602833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560548075	chr9:8602863-8602864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75417879	chr9:8602885-8602886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555983864	chr9:8602887-8602888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16928179	chr9:8602903-8602904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs143014195	chr9:8602905-8602906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116370815	chr9:8602923-8602924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537909351	chr9:8602931-8602932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375102872	chr9:8602939-8602940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183988005	chr9:8602974-8602975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188436418	chr9:8602975-8602976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191340903	chr9:8603008-8603009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547124416	chr9:8603025-8603026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10977228	chr9:8603043-8603044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539092812	chr9:8603078-8603079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183574479	chr9:8603079-8603080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150312629	chr9:8603089-8603090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16928185	chr9:8603100-8603101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537367804	chr9:8603114-8603115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138036537	chr9:8603118-8603119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62530700	chr9:8603124-8603125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373051730	chr9:8603148-8603149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540854351	chr9:8603178-8603179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560612696	chr9:8603189-8603190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572572005	chr9:8603217-8603218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112620267	chr9:8603261-8603262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370486709	chr9:8603262-8603263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546276426	chr9:8603265-8603266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564484945	chr9:8603284-8603285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549188495	chr9:8603305-8603306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	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
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8576600-8613200	Weak transcription	Fetal Brain Female	brain
2	chr9:8583600-8605600	Weak transcription	Fetal Lung	lung
3	chr9:8583600-8613600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:8586000-8618000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:8588200-8613600	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:8597200-8615000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:8599800-8603000	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:8600000-8603000	Enhancers	Brain Hippocampus Middle	brain
9	chr9:8600000-8603000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr9:8600000-8603000	Enhancers	Brain Substantia Nigra	brain
11	chr9:8600200-8615000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:8600800-8609800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:8601200-8602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:8601800-8604000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:8601800-8604000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:8601800-8613400	Weak transcription	Aorta	Aorta
17	chr9:8602200-8610000	Weak transcription	Brain Angular Gyrus	brain
18	chr9:8602400-8604400	Weak transcription	Brain Anterior Caudate	brain
19	chr9:8602400-8608600	Weak transcription	Fetal Heart	heart
20	chr9:8602800-8603000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:8603000-8604000	Weak transcription	Brain Substantia Nigra	brain
22	chr9:8603000-8605800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:8603000-8610600	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:8603000-8613400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr9:8604000-8604400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:8604000-8604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:8604000-8604800	Enhancers	Brain Substantia Nigra	brain
28	chr9:8604400-8604800	Enhancers	Brain Anterior Caudate	brain
29	chr9:8604800-8610400	Weak transcription	Brain Substantia Nigra	brain
30	chr9:8604800-8612400	Weak transcription	Brain Anterior Caudate	brain
31	chr9:8605600-8607200	Strong transcription	Fetal Lung	lung
32	chr9:8605800-8606200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:8606200-8606600	Weak transcription	Brain Inferior Temporal Lobe	brain

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