Variant report

Variant	esv2761489
Chromosome Location	chr9:7829081-7844786
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	chr9:7592716..7593255-chr9:7844122..7844707,2	MCF-7	breast:
2	chr9:7844225..7844973-chr9:8895548..8896327,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-8	chr9:7833925-7834006	NONHSAT130179

Extended variants
information (count: 231 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536691261	chr9:7831606-7831607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555605861	chr9:7831651-7831652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567203579	chr9:7831684-7831685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377384166	chr9:7831717-7831718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187588578	chr9:7831729-7831730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373188123	chr9:7831807-7831808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143785048	chr9:7831834-7831835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553741070	chr9:7831851-7831852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs118128313	chr9:7831857-7831858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112238394	chr9:7831858-7831859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191023095	chr9:7831874-7831875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576548256	chr9:7831926-7831927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543782393	chr9:7831944-7831945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148573394	chr9:7831977-7831978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529599580	chr9:7831993-7831994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539898338	chr9:7833966-7833967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs545652227	chr9:7833978-7833979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs576934139	chr9:7833991-7833992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs149526970	chr9:7834217-7834218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546744685	chr9:7834220-7834221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543505973	chr9:7834247-7834248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143666620	chr9:7834270-7834271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74815100	chr9:7834290-7834291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551140459	chr9:7834330-7834331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569252078	chr9:7834353-7834354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561676522	chr9:7834378-7834379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368156736	chr9:7834394-7834395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545567941	chr9:7834399-7834400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138241424	chr9:7834410-7834411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554151334	chr9:7834429-7834430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566094332	chr9:7834436-7834437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12236892	chr9:7834442-7834443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184335075	chr9:7834479-7834480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531434910	chr9:7834494-7834495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548068518	chr9:7834540-7834541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561692031	chr9:7834552-7834553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188822689	chr9:7834558-7834559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560066158	chr9:7834599-7834600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544117911	chr9:7834608-7834609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533687565	chr9:7834611-7834612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142758505	chr9:7834645-7834646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146107029	chr9:7834667-7834668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542105510	chr9:7834673-7834674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551765339	chr9:7834701-7834702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140052593	chr9:7834743-7834744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191738608	chr9:7834762-7834763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540603176	chr9:7834778-7834779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565271838	chr9:7834796-7834797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535155061	chr9:7841018-7841019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190089750	chr9:7841023-7841024	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
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7831600-7832000	Enhancers	HSMMtube	muscle
2	chr9:7834200-7834400	Enhancers	Left Ventricle	heart
3	chr9:7834200-7834800	Enhancers	Fetal Brain Male	brain
4	chr9:7834400-7834800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:7841000-7861200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:7843600-7844200	Enhancers	Fetal Brain Male	brain
7	chr9:7844000-7844200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr9:7844200-7844600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:7844200-7844800	Enhancers	Brain Hippocampus Middle	brain
10	chr9:7844200-7844800	Enhancers	Brain Substantia Nigra	brain
11	chr9:7844200-7845000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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