Variant report

Variant	nsv824846
Chromosome Location	chr9:8696594-8700222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs56833149	chr9:8696604-8696605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546258563	chr9:8696610-8696611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571268794	chr9:8696611-8696612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538347600	chr9:8696616-8696617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557028721	chr9:8696619-8696620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569869083	chr9:8696642-8696643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551398085	chr9:8696668-8696669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563331401	chr9:8696673-8696674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138685589	chr9:8696683-8696684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555574182	chr9:8696693-8696694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182394910	chr9:8696694-8696695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577196749	chr9:8696704-8696705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545861815	chr9:8696707-8696708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187883407	chr9:8696726-8696727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530559613	chr9:8696736-8696737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374243938	chr9:8696748-8696749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553080822	chr9:8696753-8696754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577976521	chr9:8696759-8696760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192218683	chr9:8696777-8696778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562985821	chr9:8696845-8696846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563797413	chr9:8696869-8696870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548578437	chr9:8696870-8696871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542829361	chr9:8696880-8696881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143144994	chr9:8696910-8696911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528373102	chr9:8696917-8696918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117502304	chr9:8696935-8696936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184180487	chr9:8696947-8696948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188685277	chr9:8696953-8696954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147477030	chr9:8696954-8696955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568595900	chr9:8696969-8696970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201445454	chr9:8696974-8696975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200905517	chr9:8696978-8696979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398087130	chr9:8696982-8696983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192334861	chr9:8697006-8697007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184497001	chr9:8697008-8697009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140130599	chr9:8697014-8697015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534965152	chr9:8697029-8697030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553629290	chr9:8697030-8697031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143983113	chr9:8697032-8697033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116888324	chr9:8697037-8697038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372572593	chr9:8697042-8697043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144316418	chr9:8697089-8697090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575788985	chr9:8697114-8697115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562310887	chr9:8697119-8697120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561055421	chr9:8697139-8697140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573005465	chr9:8697148-8697149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188899290	chr9:8697163-8697164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565208116	chr9:8697167-8697168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191783358	chr9:8697186-8697187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16928282	chr9:8697215-8697216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8683000-8706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:8692400-8697000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr9:8693000-8699600	Enhancers	Primary hematopoietic stem cells	blood
4	chr9:8693400-8706400	Weak transcription	Fetal Brain Male	brain
5	chr9:8693600-8697400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:8693800-8696600	Weak transcription	Fetal Kidney	kidney
7	chr9:8693800-8696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:8693800-8696800	Weak transcription	Fetal Brain Female	brain
9	chr9:8693800-8697800	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:8693800-8699800	Weak transcription	Brain Anterior Caudate	brain
11	chr9:8693800-8703400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:8693800-8706600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:8694400-8699400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:8694800-8697000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:8695000-8697600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:8695200-8699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:8695200-8699800	Weak transcription	Brain Angular Gyrus	brain
18	chr9:8695200-8704200	Weak transcription	Brain Substantia Nigra	brain
19	chr9:8695200-8711600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:8695400-8700200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:8695400-8706800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:8695600-8697800	Weak transcription	Dnd41	blood
23	chr9:8696000-8696800	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:8696000-8697200	Enhancers	Fetal Lung	lung
25	chr9:8696000-8698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:8696000-8703600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:8696200-8696600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:8696200-8698200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr9:8696200-8706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:8696400-8696600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:8696400-8697000	Enhancers	Ovary	ovary
32	chr9:8696400-8697600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:8696400-8698200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:8696600-8697000	Enhancers	Fetal Kidney	kidney
35	chr9:8696600-8698000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:8696800-8697000	Enhancers	Fetal Brain Female	brain
37	chr9:8696800-8698200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:8696800-8706000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:8697000-8698200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:8697000-8699400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:8697000-8704200	Weak transcription	Fetal Kidney	kidney
42	chr9:8697200-8701600	Weak transcription	Fetal Lung	lung
43	chr9:8697400-8697800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:8697600-8698200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr9:8697800-8698400	Enhancers	Fetal Heart	heart
46	chr9:8697800-8698800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr9:8697800-8699000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:8697800-8699400	Enhancers	Brain Hippocampus Middle	brain
49	chr9:8697800-8699400	Enhancers	Dnd41	blood
50	chr9:8698000-8698800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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