Variant report

Variant	esv3481879
Chromosome Location	chr9:8280808-8286337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 314 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554054164	chr9:8280815-8280816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185780432	chr9:8280824-8280825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539152928	chr9:8280840-8280841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1392507	chr9:8280846-8280847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12686586	chr9:8280856-8280857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576957930	chr9:8280900-8280901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543892912	chr9:8280903-8280904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78482111	chr9:8280920-8280921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542970892	chr9:8280927-8280928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12339066	chr9:8280928-8280929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1392508	chr9:8280950-8280951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs556383925	chr9:8280954-8280955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1392509	chr9:8280981-8280982	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113124991	chr9:8280983-8280984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545976555	chr9:8281012-8281013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565214569	chr9:8281061-8281062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150841060	chr9:8281073-8281074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541683072	chr9:8281094-8281095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550171216	chr9:8281110-8281111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568495160	chr9:8281166-8281167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138417337	chr9:8281202-8281203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548111446	chr9:8281236-8281237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115662965	chr9:8281238-8281239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539978586	chr9:8281264-8281265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557937755	chr9:8281290-8281291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569375892	chr9:8281297-8281298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12340115	chr9:8281308-8281309	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554917962	chr9:8281310-8281311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573335883	chr9:8281320-8281321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534603446	chr9:8281327-8281328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs118055843	chr9:8281387-8281388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60903063	chr9:8281410-8281411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545156041	chr9:8281461-8281462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114643491	chr9:8281473-8281474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576584193	chr9:8281522-8281523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564151933	chr9:8281555-8281556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7860127	chr9:8281570-8281571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527615912	chr9:8281571-8281572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142956039	chr9:8281582-8281583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547480044	chr9:8281598-8281599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116440844	chr9:8281608-8281609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549991959	chr9:8281619-8281620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563457820	chr9:8281622-8281623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551528884	chr9:8281634-8281635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569940692	chr9:8281655-8281656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536733668	chr9:8281683-8281684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77346597	chr9:8281692-8281693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368144238	chr9:8281738-8281739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146166105	chr9:8281739-8281740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552710873	chr9:8281749-8281750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8276000-8284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:8280400-8281600	Enhancers	Fetal Lung	lung
3	chr9:8280800-8281400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:8281200-8282400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:8281400-8282400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:8281600-8282000	Enhancers	Fetal Intestine Small	intestine
7	chr9:8281600-8282000	Enhancers	Dnd41	blood
8	chr9:8281800-8282200	Enhancers	Fetal Intestine Large	intestine
9	chr9:8282000-8286200	Weak transcription	Fetal Intestine Small	intestine
10	chr9:8282200-8286200	Weak transcription	Fetal Intestine Large	intestine
11	chr9:8282400-8283000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:8282400-8283200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:8282600-8283000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:8283000-8283200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:8284400-8286200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:8284800-8285000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:8285000-8285400	Enhancers	Brain Germinal Matrix	brain
18	chr9:8285600-8286200	Enhancers	Pancreas	Pancrea
19	chr9:8286000-8286400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:8286200-8288000	Weak transcription	Pancreas	Pancrea
21	chr9:8286200-8290600	Enhancers	Fetal Intestine Large	intestine
22	chr9:8286200-8290600	Enhancers	Fetal Intestine Small	intestine

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