Variant report

Variant	esv2761486
Chromosome Location	chr9:7306383-7320511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 639 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184842195	chr9:7306390-7306391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568985045	chr9:7306397-7306398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541064206	chr9:7306399-7306400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562704640	chr9:7306406-7306407	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374845273	chr9:7306415-7306416	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10976210	chr9:7306478-7306479	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536467871	chr9:7306491-7306492	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189172944	chr9:7306496-7306497	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557468231	chr9:7306533-7306534	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs73643017	chr9:7306563-7306564	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533596501	chr9:7306587-7306588	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543771739	chr9:7306594-7306595	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139906677	chr9:7306613-7306614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs181504481	chr9:7306620-7306621	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186609164	chr9:7306626-7306627	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556797255	chr9:7306628-7306629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548739178	chr9:7306637-7306638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368816833	chr9:7306656-7306657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575008094	chr9:7306705-7306706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs199578885	chr9:7306726-7306727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116295367	chr9:7306747-7306748	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs554951629	chr9:7306767-7306768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs111538675	chr9:7306768-7306769	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs200686668	chr9:7306773-7306774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs398113191	chr9:7306779-7306780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574304986	chr9:7306833-7306834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560432041	chr9:7306855-7306856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113419021	chr9:7306863-7306864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144581727	chr9:7306874-7306875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7037507	chr9:7306900-7306901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142246996	chr9:7306923-7306924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370075732	chr9:7306941-7306942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115473909	chr9:7306949-7306950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549878843	chr9:7306957-7306958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569148313	chr9:7306958-7306959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151248083	chr9:7306975-7306976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548369227	chr9:7306976-7306977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189420220	chr9:7306977-7306978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180924189	chr9:7306998-7306999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533682294	chr9:7307020-7307021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186148427	chr9:7307021-7307022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538555900	chr9:7307034-7307035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201644666	chr9:7307059-7307060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550163280	chr9:7307082-7307083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537860272	chr9:7307099-7307100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140521259	chr9:7307100-7307101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73406556	chr9:7307126-7307127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542151580	chr9:7307137-7307138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370813367	chr9:7307153-7307154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554393287	chr9:7307217-7307218	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7306200-7306400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:7306400-7306600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:7306600-7306800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:7306800-7307400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:7307400-7311400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:7310400-7310600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:7312400-7312800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:7314400-7314600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:7314600-7315200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:7314600-7315600	Enhancers	Placenta	Placenta
11	chr9:7314600-7317000	Enhancers	Fetal Muscle Leg	muscle
12	chr9:7314800-7317000	Enhancers	Fetal Stomach	stomach
13	chr9:7315000-7315400	Enhancers	Right Ventricle	heart
14	chr9:7315000-7315600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:7315000-7315600	Enhancers	Fetal Muscle Trunk	muscle
16	chr9:7315000-7315600	ZNF genes & repeats	Pancreas	Pancrea
17	chr9:7315000-7317400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr9:7315000-7317600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:7315200-7315400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:7315200-7315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:7315200-7316400	Enhancers	HSMM	muscle
22	chr9:7315200-7316800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr9:7315200-7316800	Enhancers	Fetal Heart	heart
24	chr9:7315200-7316800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:7315200-7317400	Enhancers	NHDF-Ad	bronchial
26	chr9:7315400-7315600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:7315400-7316800	Enhancers	Aorta	Aorta
28	chr9:7315400-7316800	Enhancers	Osteobl	bone
29	chr9:7315400-7317400	Enhancers	HSMMtube	muscle
30	chr9:7315600-7315800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:7315600-7316000	Weak transcription	Pancreas	Pancrea
32	chr9:7315600-7316600	Weak transcription	Placenta	Placenta
33	chr9:7315600-7316800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:7315800-7316000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:7315800-7316000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:7315800-7317000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr9:7315800-7317400	Enhancers	Fetal Lung	lung
38	chr9:7316000-7316200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:7316000-7316200	Enhancers	Pancreas	Pancrea
40	chr9:7316000-7316400	Enhancers	Fetal Kidney	kidney
41	chr9:7316000-7316600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:7316000-7316600	Enhancers	Adipose Nuclei	Adipose
43	chr9:7316000-7317000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:7316000-7317000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:7316000-7317200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:7316000-7317400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr9:7316000-7317400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:7316000-7321200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:7316200-7316800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr9:7316200-7317000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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