Variant report

Variant	esv1832991
Chromosome Location	chr9:11353358-11375594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 425 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546431156	chr9:11353410-11353411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566656226	chr9:11353453-11353454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190428073	chr9:11353499-11353500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76147472	chr9:11353506-11353507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2152261	chr9:11353512-11353513	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571313004	chr9:11353559-11353560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568777819	chr9:11353562-11353563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548969327	chr9:11353594-11353595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537815555	chr9:11353598-11353599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554581560	chr9:11353611-11353612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571032298	chr9:11353719-11353720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574617685	chr9:11353722-11353723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533860616	chr9:11353735-11353736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150494993	chr9:11353736-11353737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76198374	chr9:11353760-11353761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577321410	chr9:11353782-11353783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546189279	chr9:11353805-11353806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563161401	chr9:11353862-11353863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145641987	chr9:11353866-11353867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541857148	chr9:11353868-11353869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561739020	chr9:11353899-11353900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527828176	chr9:11353901-11353902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17184286	chr9:11353902-11353903	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114410131	chr9:11353956-11353957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532301724	chr9:11353966-11353967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552212145	chr9:11354019-11354020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16927402	chr9:11354069-11354070	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535114074	chr9:11354086-11354087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138171536	chr9:11354103-11354104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182639815	chr9:11354142-11354143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16927403	chr9:11354168-11354169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142021271	chr9:11354183-11354184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571917739	chr9:11354196-11354197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539993294	chr9:11354253-11354254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556465813	chr9:11354270-11354271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536703387	chr9:11354272-11354273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576370113	chr9:11354287-11354288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556928249	chr9:11354314-11354315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372176509	chr9:11354317-11354318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150684512	chr9:11354328-11354329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555344211	chr9:11354397-11354398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139971863	chr9:11354398-11354399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541185077	chr9:11354404-11354405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79245196	chr9:11354409-11354410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533248350	chr9:11354604-11354605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571897882	chr9:11354607-11354608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557728070	chr9:11354660-11354661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546011986	chr9:11354663-11354664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562532177	chr9:11354704-11354705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528957137	chr9:11354706-11354707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Disorders of sex development	21048976	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
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11351800-11353600	Weak transcription	Brain Germinal Matrix	brain
2	chr9:11353000-11353400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:11353000-11355600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:11353400-11356600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:11353600-11353800	Enhancers	Fetal Brain Male	brain
6	chr9:11353600-11354000	Enhancers	Brain Germinal Matrix	brain
7	chr9:11353800-11354800	Weak transcription	Fetal Brain Male	brain
8	chr9:11354000-11355200	Weak transcription	Brain Germinal Matrix	brain
9	chr9:11354800-11356200	Enhancers	Fetal Brain Male	brain
10	chr9:11355200-11356400	Enhancers	Brain Germinal Matrix	brain
11	chr9:11355600-11356200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:11355800-11356200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:11355800-11356600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:11356000-11356400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:11356000-11356400	Enhancers	Fetal Brain Female	brain
16	chr9:11366600-11367000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:11366800-11367000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:11367000-11370800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:11372800-11377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:11374800-11375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:11374800-11375600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:11374800-11375600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:11375000-11375400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr9:11375000-11375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:11375000-11375600	Enhancers	HUES6 Cell Line	embryonic stem cell

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