Variant report

Variant	esv2761247
Chromosome Location	chr9:8775019-8786718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 725 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41427452	chr9:8775019-8775020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550567949	chr9:8775021-8775022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568821356	chr9:8775022-8775023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12350639	chr9:8775023-8775024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs193089663	chr9:8775026-8775027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184960356	chr9:8775027-8775028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189851809	chr9:8775042-8775043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374781532	chr9:8775044-8775045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143751245	chr9:8775075-8775076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558639319	chr9:8775077-8775078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7868093	chr9:8775087-8775088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181124085	chr9:8775111-8775112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553005056	chr9:8775171-8775172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151328476	chr9:8775222-8775223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116587000	chr9:8775229-8775230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370881341	chr9:8775231-8775232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184528485	chr9:8775245-8775246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573351829	chr9:8775255-8775256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111576430	chr9:8775275-8775276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188168056	chr9:8775433-8775434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181997122	chr9:8775478-8775479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375065545	chr9:8775491-8775492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200175164	chr9:8775523-8775524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2890831	chr9:8775547-8775548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186380614	chr9:8775565-8775566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5896256	chr9:8775577-8775578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397970529	chr9:8775582-8775583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529979405	chr9:8775599-8775600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115015388	chr9:8775604-8775605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566161452	chr9:8775613-8775614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2381902	chr9:8775620-8775621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551944145	chr9:8775623-8775624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570527535	chr9:8775637-8775638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2381901	chr9:8775656-8775657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557626391	chr9:8775663-8775664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371751810	chr9:8775671-8775672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536973140	chr9:8775689-8775690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140584520	chr9:8775704-8775705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190832877	chr9:8775746-8775747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181963164	chr9:8775757-8775758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150302243	chr9:8775762-8775763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186583872	chr9:8775765-8775766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191490359	chr9:8775771-8775772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562380440	chr9:8775786-8775787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114975632	chr9:8775802-8775803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2381900	chr9:8775803-8775804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560021939	chr9:8775819-8775820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202095661	chr9:8775842-8775843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386414404	chr9:8775843-8775844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376003144	chr9:8775853-8775854	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:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8752200-8776600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:8761600-8777600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:8762600-8779000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:8762800-8778600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:8763200-8778000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:8763200-8780600	Weak transcription	Fetal Kidney	kidney
7	chr9:8764800-8783600	Weak transcription	Fetal Stomach	stomach
8	chr9:8767600-8778400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:8769600-8779600	Weak transcription	Fetal Lung	lung
10	chr9:8773600-8777800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:8773600-8778400	Weak transcription	Brain Anterior Caudate	brain
12	chr9:8773800-8777600	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:8774000-8779600	Weak transcription	Brain Angular Gyrus	brain
14	chr9:8774200-8777600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:8774200-8777800	Weak transcription	Brain Substantia Nigra	brain
16	chr9:8776200-8776400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr9:8776600-8778400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:8777400-8778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:8777600-8778000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:8777600-8778200	Enhancers	Brain Hippocampus Middle	brain
21	chr9:8777600-8778400	Enhancers	Brain Cingulate Gyrus	brain
22	chr9:8777600-8778600	Enhancers	Fetal Brain Female	brain
23	chr9:8777600-8779200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:8777600-8782000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:8777800-8778000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:8777800-8778200	Enhancers	Brain Substantia Nigra	brain
27	chr9:8777800-8778600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:8777800-8779000	Enhancers	Fetal Heart	heart
29	chr9:8777800-8779800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr9:8777800-8780600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:8778000-8781200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:8778000-8782000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:8778200-8778400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:8778200-8778800	Active TSS	Brain Hippocampus Middle	brain
35	chr9:8778200-8779800	Active TSS	Brain Substantia Nigra	brain
36	chr9:8778200-8781400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:8778200-8781600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr9:8778400-8778600	Enhancers	Ovary	ovary
39	chr9:8778400-8778600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr9:8778400-8778800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr9:8778400-8778800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr9:8778400-8779000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr9:8778400-8779000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr9:8778400-8779000	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr9:8778400-8779200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:8778400-8779800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr9:8778400-8779800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr9:8778400-8779800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr9:8778400-8781800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:8778400-8782000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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