Variant report

Variant	esv3375228
Chromosome Location	chr9:7869552-7871700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7870654..7872409-chr9:7873733..7876466,2	MCF-7	breast:
2	chr9:7870342..7873066-chr9:7873519..7876251,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372671928	chr9:7870802-7870803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374738760	chr9:7870814-7870815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138760033	chr9:7870817-7870818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536940128	chr9:7870825-7870826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553746296	chr9:7870843-7870844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577016302	chr9:7870856-7870857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116334432	chr9:7870872-7870873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149406575	chr9:7870910-7870911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144768032	chr9:7870970-7870971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541685644	chr9:7870984-7870985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560955891	chr9:7870991-7870992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572851107	chr9:7870993-7870994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375459731	chr9:7871002-7871003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192003962	chr9:7871009-7871010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540372143	chr9:7871013-7871014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138564600	chr9:7871019-7871020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117084111	chr9:7871026-7871027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368297211	chr9:7871028-7871029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550875218	chr9:7871076-7871077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563072384	chr9:7871093-7871094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184117429	chr9:7871096-7871097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548862517	chr9:7871106-7871107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10815701	chr9:7871163-7871164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs377310850	chr9:7871173-7871174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144127060	chr9:7871180-7871181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575318777	chr9:7871183-7871184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552291299	chr9:7871203-7871204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570439183	chr9:7871218-7871219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147321394	chr9:7871319-7871320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140336783	chr9:7871323-7871324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574251255	chr9:7871331-7871332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535364524	chr9:7871338-7871339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553644912	chr9:7871362-7871363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189809891	chr9:7871420-7871421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4595180	chr9:7871453-7871454	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565405064	chr9:7871483-7871484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181070353	chr9:7871484-7871485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7034498	chr9:7871494-7871495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562952379	chr9:7871515-7871516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530274309	chr9:7871590-7871591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548946038	chr9:7871609-7871610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184256697	chr9:7871610-7871611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561121284	chr9:7871615-7871616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368770609	chr9:7871616-7871617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527320583	chr9:7871635-7871636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372687731	chr9:7871643-7871644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113323248	chr9:7871667-7871668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34867343	chr9:7871689-7871690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7870800-7872800	Enhancers	Dnd41	blood
2	chr9:7871000-7874000	Enhancers	Fetal Thymus	thymus
3	chr9:7871200-7872200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr9:7871400-7872200	Enhancers	Thymus	Thymus

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