Variant report

Variant	nsv973831
Chromosome Location	chr9:8554250-8557126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568256801	chr9:8554254-8554255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188853288	chr9:8554261-8554262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373371003	chr9:8554304-8554305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193241010	chr9:8554305-8554306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376664200	chr9:8554345-8554346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534320731	chr9:8554362-8554363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558757937	chr9:8554372-8554373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577212839	chr9:8554416-8554417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145290413	chr9:8554421-8554422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556482612	chr9:8554434-8554435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574797217	chr9:8554442-8554443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185292277	chr9:8554460-8554461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369845531	chr9:8554508-8554509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73430462	chr9:8554513-8554514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373361656	chr9:8554523-8554524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527864052	chr9:8554560-8554561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574067472	chr9:8554585-8554586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146419153	chr9:8554586-8554587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564024030	chr9:8554647-8554648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539958656	chr9:8554652-8554653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73430464	chr9:8554679-8554680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187362769	chr9:8554722-8554723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75275007	chr9:8554730-8554731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529218815	chr9:8554736-8554737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191854018	chr9:8554749-8554750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140754211	chr9:8554763-8554764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532212036	chr9:8554786-8554787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72696652	chr9:8554812-8554813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370116696	chr9:8554822-8554823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531252396	chr9:8554864-8554865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144699099	chr9:8554891-8554892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138425565	chr9:8554907-8554908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10217447	chr9:8554938-8554939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7030442	chr9:8554941-8554942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574460230	chr9:8554944-8554945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112170155	chr9:8554945-8554946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542153195	chr9:8554952-8554953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554022695	chr9:8554973-8554974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35085771	chr9:8554990-8554991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572351196	chr9:8554992-8554993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546073046	chr9:8554995-8554996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564663049	chr9:8555007-8555008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149307340	chr9:8555098-8555099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543469909	chr9:8555120-8555121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561699524	chr9:8555148-8555149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528872309	chr9:8555171-8555172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527736776	chr9:8555175-8555176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547758322	chr9:8555207-8555208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201751989	chr9:8555223-8555224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565968358	chr9:8555227-8555228	Weak transcription Enhancers	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
2	chr9:8518400-8555200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:8534600-8564000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:8541600-8557600	Weak transcription	Fetal Stomach	stomach
5	chr9:8545600-8555800	Weak transcription	Fetal Lung	lung
6	chr9:8546000-8557000	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:8553000-8561400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:8553400-8555400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:8553600-8571000	Weak transcription	Brain Anterior Caudate	brain
10	chr9:8553800-8555800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:8553800-8555800	Weak transcription	Brain Substantia Nigra	brain
12	chr9:8553800-8559400	Weak transcription	Brain Angular Gyrus	brain
13	chr9:8554000-8555200	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:8554400-8555600	Weak transcription	Ovary	ovary
15	chr9:8554400-8557200	Enhancers	Liver	Liver
16	chr9:8555200-8555400	Enhancers	Fetal Muscle Trunk	muscle
17	chr9:8555200-8556200	Enhancers	Brain Hippocampus Middle	brain
18	chr9:8555200-8556400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:8555400-8556200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:8555400-8556200	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:8555400-8557000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:8555600-8556000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:8555600-8556000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr9:8555600-8556200	Enhancers	Ovary	ovary
25	chr9:8555600-8556400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr9:8555600-8556600	Enhancers	Adipose Nuclei	Adipose
27	chr9:8555600-8557000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:8555600-8557400	Enhancers	Fetal Kidney	kidney
29	chr9:8555800-8556000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:8555800-8556200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:8555800-8556400	Enhancers	Brain Substantia Nigra	brain
32	chr9:8555800-8556600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:8555800-8556600	Enhancers	Fetal Lung	lung
34	chr9:8555800-8557400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:8556000-8556200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:8556000-8560600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:8556000-8561200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:8556200-8558400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:8556200-8559400	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:8556200-8559600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:8556200-8560800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:8556200-8571200	Weak transcription	Ovary	ovary
43	chr9:8556400-8556800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:8556400-8568200	Weak transcription	Brain Substantia Nigra	brain
45	chr9:8556600-8558200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:8556600-8570600	Weak transcription	Fetal Lung	lung
47	chr9:8556800-8558600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:8557000-8557200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:8557000-8557200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:8557000-8557200	Enhancers	Fetal Muscle Leg	muscle

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