Variant report

Variant	esv3481889
Chromosome Location	chr9:8660111-8663285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545685768	chr9:8660123-8660124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs907625	chr9:8660158-8660159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs541520172	chr9:8660195-8660196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143015954	chr9:8660225-8660226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561021980	chr9:8660253-8660254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533717161	chr9:8660262-8660263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374741919	chr9:8660268-8660269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558716806	chr9:8660312-8660313	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570614641	chr9:8660323-8660324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs73640934	chr9:8660332-8660333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150511079	chr9:8660346-8660347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375113122	chr9:8660363-8660364	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs115738103	chr9:8660408-8660409	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569216776	chr9:8660431-8660432	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4742528	chr9:8660447-8660448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529711353	chr9:8660523-8660524	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548237427	chr9:8660524-8660525	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566557099	chr9:8660574-8660575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139449565	chr9:8660604-8660605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77676840	chr9:8660653-8660654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571819934	chr9:8660680-8660681	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7870388	chr9:8660693-8660694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557629736	chr9:8660705-8660706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs575558322	chr9:8660765-8660766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371659034	chr9:8660801-8660802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555735965	chr9:8660811-8660812	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554556166	chr9:8660824-8660825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183017015	chr9:8660873-8660874	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs374949046	chr9:8660927-8660928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565751319	chr9:8660963-8660964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs199622866	chr9:8660964-8660965	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187630947	chr9:8660984-8660985	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192532001	chr9:8660993-8660994	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369355436	chr9:8661001-8661002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144488576	chr9:8661034-8661035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs544127863	chr9:8661041-8661042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78340120	chr9:8661092-8661093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183969916	chr9:8661099-8661100	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548173416	chr9:8661125-8661126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs72700331	chr9:8661132-8661133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527355800	chr9:8661261-8661262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139693988	chr9:8661268-8661269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113108054	chr9:8661284-8661285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539200452	chr9:8661289-8661290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116611072	chr9:8661324-8661325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187832179	chr9:8661340-8661341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116863864	chr9:8661349-8661350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554492929	chr9:8661372-8661373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371788398	chr9:8661374-8661375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565688535	chr9:8661394-8661395	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8644400-8660400	Weak transcription	Aorta	Aorta
2	chr9:8652800-8660800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:8652800-8664400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:8652800-8669000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:8653800-8660400	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:8653800-8664800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:8654400-8660400	Weak transcription	Ovary	ovary
8	chr9:8658200-8661400	Enhancers	Brain Cingulate Gyrus	brain
9	chr9:8658800-8661000	Enhancers	Brain Substantia Nigra	brain
10	chr9:8658800-8661600	Enhancers	Brain Hippocampus Middle	brain
11	chr9:8659000-8661000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:8659000-8661200	Enhancers	Brain Anterior Caudate	brain
13	chr9:8659600-8660200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:8659800-8660200	Weak transcription	Fetal Brain Male	brain
15	chr9:8659800-8660400	Enhancers	Primary hematopoietic stem cells	blood
16	chr9:8659800-8662600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr9:8660000-8660200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:8660000-8660200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr9:8660000-8660800	Enhancers	Adipose Nuclei	Adipose
20	chr9:8660000-8661000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:8660000-8661000	Enhancers	Colon Smooth Muscle	Colon
22	chr9:8660000-8661400	Enhancers	Liver	Liver
23	chr9:8660000-8661400	Enhancers	Brain Angular Gyrus	brain
24	chr9:8660000-8661400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:8660200-8660600	Enhancers	Fetal Brain Female	brain
26	chr9:8660200-8660800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:8660200-8660800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr9:8660200-8661000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:8660200-8661200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr9:8660200-8661200	Enhancers	Fetal Kidney	kidney
31	chr9:8660200-8661400	Enhancers	Fetal Brain Male	brain
32	chr9:8660200-8661600	Enhancers	Fetal Heart	heart
33	chr9:8660400-8660600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr9:8660400-8660800	Enhancers	Brain Germinal Matrix	brain
35	chr9:8660400-8660800	Enhancers	Fetal Muscle Leg	muscle
36	chr9:8660400-8660800	Enhancers	Ovary	ovary
37	chr9:8660400-8661000	Enhancers	Aorta	Aorta
38	chr9:8660400-8661000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr9:8660400-8661000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr9:8660400-8661200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:8660400-8661200	Enhancers	Psoas Muscle	Psoas
42	chr9:8660400-8661200	Enhancers	Dnd41	blood
43	chr9:8660400-8661400	Enhancers	Fetal Lung	lung
44	chr9:8660400-8661400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr9:8660600-8660800	Enhancers	Primary hematopoietic stem cells	blood
46	chr9:8660600-8661000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr9:8660600-8661200	Enhancers	NH-A	brain
48	chr9:8660600-8668000	Weak transcription	Fetal Brain Female	brain
49	chr9:8660800-8661000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:8660800-8661200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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