Variant report

Variant	esv3328639
Chromosome Location	chr9:7286200-7286658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573344559	chr9:7286229-7286230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200098635	chr9:7286234-7286235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201367788	chr9:7286235-7286236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139332333	chr9:7286241-7286242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370761671	chr9:7286253-7286254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10976178	chr9:7286273-7286274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150007606	chr9:7286278-7286279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115883109	chr9:7286315-7286316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562515925	chr9:7286317-7286318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374605560	chr9:7286381-7286382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549221123	chr9:7286392-7286393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13296023	chr9:7286404-7286405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534816100	chr9:7286450-7286451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376172137	chr9:7286454-7286455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546421720	chr9:7286480-7286481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189925140	chr9:7286495-7286496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538663440	chr9:7286498-7286499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10976179	chr9:7286499-7286500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575274621	chr9:7286500-7286501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2770726	chr9:7286501-7286502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145372850	chr9:7286510-7286511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148765263	chr9:7286530-7286531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540810866	chr9:7286545-7286546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565071596	chr9:7286562-7286563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4742322	chr9:7286599-7286600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548345400	chr9:7286601-7286602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7284800-7288600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:7285200-7286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:7285200-7287000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:7285200-7287000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:7285200-7287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:7285200-7301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:7285400-7287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:7285400-7287200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:7285400-7289800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:7285600-7286800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:7285600-7289200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:7286600-7288400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:7286600-7288400	Enhancers	HUES48 Cell Line	embryonic stem cell

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