Variant report

Variant	esv2764144
Chromosome Location	chr9:8009205-8021065
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	chr11:107727967..107730044-chr9:8019737..8022718,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110660	chromatin interactions

Extended variants
information (count: 433 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369703473	chr9:8011405-8011406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568573604	chr9:8011422-8011423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112352736	chr9:8011428-8011429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571721461	chr9:8011472-8011473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34686268	chr9:8011473-8011474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397694263	chr9:8011479-8011480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398113197	chr9:8011480-8011481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372995603	chr9:8011481-8011482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531078877	chr9:8011496-8011497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554290223	chr9:8011516-8011517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529672889	chr9:8011533-8011534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10976717	chr9:8011579-8011580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533584947	chr9:8011591-8011592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558791518	chr9:8011601-8011602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10758921	chr9:8011603-8011604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138967756	chr9:8011639-8011640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148971908	chr9:8011650-8011651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202003322	chr9:8011669-8011670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76343052	chr9:8011670-8011671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79232438	chr9:8011671-8011672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574734004	chr9:8011680-8011681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543137274	chr9:8011701-8011702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561261600	chr9:8011719-8011720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10976718	chr9:8011802-8011803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10815739	chr9:8011813-8011814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs143829982	chr9:8011849-8011850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114373181	chr9:8011855-8011856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148174387	chr9:8011857-8011858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569104242	chr9:8011870-8011871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530271206	chr9:8011922-8011923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547865041	chr9:8011958-8011959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575242200	chr9:8011966-8011967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377117769	chr9:8011982-8011983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533750359	chr9:8012021-8012022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544330691	chr9:8012037-8012038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180953910	chr9:8012040-8012041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145971383	chr9:8012044-8012045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574251928	chr9:8012062-8012063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538137067	chr9:8012114-8012115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556540621	chr9:8012151-8012152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12337058	chr9:8012166-8012167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542076856	chr9:8012169-8012170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574544711	chr9:8012170-8012171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9408722	chr9:8012194-8012195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551311638	chr9:8012211-8012212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369223127	chr9:8012221-8012222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150097981	chr9:8012224-8012225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186085794	chr9:8012235-8012236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79089176	chr9:8012250-8012251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190990135	chr9:8012304-8012305	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8011400-8012400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:8011800-8012400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:8011800-8012400	Enhancers	Brain Substantia Nigra	brain
4	chr9:8012000-8012400	Enhancers	Brain Hippocampus Middle	brain
5	chr9:8012000-8012600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:8012400-8012600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr9:8012400-8021400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:8012600-8013200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:8013200-8014400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:8014400-8015400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:8015400-8015800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr9:8015400-8016000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr9:8015600-8016000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:8020000-8020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:8020200-8020600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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