Variant report

Variant	nsv892227
Chromosome Location	chr9:8445066-8461714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 858 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10977110	chr9:8445066-8445067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185375685	chr9:8445071-8445072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138053280	chr9:8445113-8445114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116763928	chr9:8445154-8445155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570491928	chr9:8445184-8445185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537942077	chr9:8445192-8445193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555890062	chr9:8445210-8445211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554420082	chr9:8445242-8445243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576455816	chr9:8445248-8445249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574053170	chr9:8445261-8445262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10815876	chr9:8445288-8445289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72692913	chr9:8445307-8445308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373123499	chr9:8445334-8445335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190912528	chr9:8445362-8445363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545627526	chr9:8445369-8445370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375221702	chr9:8445463-8445464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142596466	chr9:8445484-8445485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574242502	chr9:8445501-8445502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200096239	chr9:8445504-8445505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75203960	chr9:8445556-8445557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149089858	chr9:8445596-8445597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562750059	chr9:8445617-8445618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530084626	chr9:8445624-8445625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143117749	chr9:8445639-8445640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567204335	chr9:8445648-8445649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543349141	chr9:8445650-8445651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79074367	chr9:8445651-8445652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541245931	chr9:8445680-8445681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180959219	chr9:8445686-8445687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112913262	chr9:8445690-8445691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550331180	chr9:8445721-8445722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556189482	chr9:8445727-8445728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533477897	chr9:8445733-8445734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567741256	chr9:8445735-8445736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535109879	chr9:8445737-8445738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376118576	chr9:8445739-8445740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572049605	chr9:8445757-8445758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10977111	chr9:8445767-8445768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12338582	chr9:8445838-8445839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7855100	chr9:8445864-8445865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185835628	chr9:8445882-8445883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563025241	chr9:8445901-8445902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114811508	chr9:8445905-8445906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377533938	chr9:8445910-8445911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542280926	chr9:8445979-8445980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192293055	chr9:8445989-8445990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183231530	chr9:8445990-8445991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370139858	chr9:8446000-8446001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577583736	chr9:8446020-8446021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564538640	chr9:8446052-8446053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Medulloblastoma	16783165	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:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8389600-8451000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8402600-8448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:8418200-8476000	Weak transcription	Fetal Brain Male	brain
4	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:8419800-8447600	Weak transcription	Fetal Brain Female	brain
6	chr9:8420600-8466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
8	chr9:8421400-8456400	Weak transcription	Ovary	ovary
9	chr9:8422000-8464800	Weak transcription	Brain Germinal Matrix	brain
10	chr9:8423200-8446800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:8424200-8485000	Weak transcription	Fetal Kidney	kidney
12	chr9:8425600-8447600	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:8428000-8447400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:8430200-8465000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:8432600-8448400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:8432800-8447400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:8434200-8485200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:8436800-8446600	Weak transcription	Fetal Lung	lung
19	chr9:8438200-8446800	Weak transcription	Brain Anterior Caudate	brain
20	chr9:8438200-8457600	Weak transcription	Fetal Heart	heart
21	chr9:8438400-8447600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:8438600-8448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:8438600-8459800	Weak transcription	Brain Angular Gyrus	brain
24	chr9:8439000-8447000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:8439600-8447600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:8441000-8447000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:8442000-8451000	Weak transcription	Brain Substantia Nigra	brain
28	chr9:8442000-8451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:8442000-8458000	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:8442200-8445200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:8442200-8522200	Weak transcription	Liver	Liver
32	chr9:8445200-8446200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:8446000-8447600	Weak transcription	Fetal Stomach	stomach
34	chr9:8446200-8450800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:8446600-8451800	Strong transcription	Fetal Lung	lung
36	chr9:8446800-8447200	Strong transcription	Brain Anterior Caudate	brain
37	chr9:8446800-8447400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:8447000-8447800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr9:8447000-8449800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:8447000-8450400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:8447200-8456200	Weak transcription	Brain Anterior Caudate	brain
42	chr9:8447400-8447800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:8447400-8448000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr9:8447400-8448600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr9:8447600-8447800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr9:8447600-8448000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr9:8447600-8448000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:8447600-8448200	Strong transcription	Fetal Muscle Leg	muscle
49	chr9:8447600-8448400	Strong transcription	Fetal Stomach	stomach
50	chr9:8447600-8449000	Strong transcription	Fetal Brain Female	brain

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