Variant report

Variant	esv3404858
Chromosome Location	chr9:8725852-8727850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10122099	chr9:8725867-8725868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147883778	chr9:8725883-8725884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190116643	chr9:8725884-8725885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141539445	chr9:8725920-8725921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375991693	chr9:8725930-8725931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373370852	chr9:8725944-8725945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193062961	chr9:8725951-8725952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370042067	chr9:8725990-8725991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201758183	chr9:8726008-8726009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199517813	chr9:8726025-8726026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72702310	chr9:8726026-8726027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368332115	chr9:8726027-8726028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10116786	chr9:8726030-8726031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551642303	chr9:8726038-8726039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199981998	chr9:8726044-8726045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71500962	chr9:8726064-8726065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537004652	chr9:8726074-8726075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373607460	chr9:8726108-8726109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188631566	chr9:8726116-8726117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554950719	chr9:8726135-8726136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1473822	chr9:8726153-8726154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs534433061	chr9:8726155-8726156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181115982	chr9:8726161-8726162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1865344	chr9:8726189-8726190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73429611	chr9:8726246-8726247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185325337	chr9:8726255-8726256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188170308	chr9:8726283-8726284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78744465	chr9:8726288-8726289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543807121	chr9:8726289-8726290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562089202	chr9:8726318-8726319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529336349	chr9:8726324-8726325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4614053	chr9:8726343-8726344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556507820	chr9:8726368-8726369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143353495	chr9:8726387-8726388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375661230	chr9:8726408-8726409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533145247	chr9:8726418-8726419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551288160	chr9:8726421-8726422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371072352	chr9:8726451-8726452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569890131	chr9:8726453-8726454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567177935	chr9:8726470-8726471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201043991	chr9:8726512-8726513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530728711	chr9:8726537-8726538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531422352	chr9:8726589-8726590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377572442	chr9:8726590-8726591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368948199	chr9:8726592-8726593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57173863	chr9:8726594-8726595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61635139	chr9:8726596-8726597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57748302	chr9:8726598-8726599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533193420	chr9:8726600-8726601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182179026	chr9:8726618-8726619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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	chr9:8704400-8731800	Weak transcription	Fetal Lung	lung
2	chr9:8710600-8733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:8716200-8732600	Weak transcription	Fetal Brain Female	brain
4	chr9:8718400-8733600	Weak transcription	Psoas Muscle	Psoas
5	chr9:8718800-8730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:8718800-8732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:8719000-8730800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:8719000-8733200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:8719000-8733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:8719400-8727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:8720600-8731800	Weak transcription	Brain Anterior Caudate	brain
12	chr9:8720600-8732600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:8721000-8728800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:8721000-8732200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:8722000-8744600	Weak transcription	Dnd41	blood
16	chr9:8723400-8726800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:8723400-8730400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:8723400-8732800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:8723600-8730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:8724400-8726200	Enhancers	Fetal Heart	heart
21	chr9:8724600-8727400	Weak transcription	Fetal Kidney	kidney
22	chr9:8724600-8730800	Weak transcription	Brain Angular Gyrus	brain
23	chr9:8724800-8732400	Weak transcription	Brain Substantia Nigra	brain
24	chr9:8724800-8733400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:8725000-8726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:8725000-8732200	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:8725000-8733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:8725000-8733600	Weak transcription	Ovary	ovary
29	chr9:8725600-8726000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:8725600-8726000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:8725800-8733200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:8726000-8727200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:8726000-8727200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:8726800-8727000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:8727000-8727200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:8727000-8733600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:8727200-8727400	Enhancers	Brain Germinal Matrix	brain
38	chr9:8727200-8727600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:8727200-8727600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr9:8727200-8727800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:8727400-8727800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr9:8727400-8727800	Enhancers	Fetal Kidney	kidney
43	chr9:8727400-8730800	Weak transcription	Brain Germinal Matrix	brain
44	chr9:8727600-8727800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr9:8727600-8727800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:8727600-8731800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr9:8727600-8733200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:8727800-8731800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:8727800-8732800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:8727800-8732800	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links