Variant report

Variant	nsv613414
Chromosome Location	chr9:11117514-11155468
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	chr9:11115862..11118704-chr9:11119627..11122004,2	MCF-7	breast:
2	chr9:11115862..11118704-chr9:11119627..11122004,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-3	chr9:11143876-11144029	XLOC_007645

Extended variants
information (count: 537 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573214789	chr9:11124206-11124207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557664604	chr9:11124211-11124212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185231151	chr9:11124251-11124252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147080097	chr9:11124264-11124265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1981074	chr9:11124273-11124274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573328491	chr9:11124284-11124285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545527666	chr9:11124286-11124287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138037206	chr9:11124290-11124291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141657981	chr9:11124312-11124313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543041242	chr9:11124318-11124319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549784607	chr9:11124322-11124323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563631085	chr9:11124330-11124331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112154231	chr9:11124349-11124350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548525811	chr9:11124371-11124372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138412244	chr9:11124375-11124376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534405418	chr9:11124412-11124413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551503308	chr9:11124434-11124435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571728082	chr9:11124447-11124448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113137358	chr9:11124461-11124462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1034222	chr9:11124480-11124481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1319616	chr9:11124496-11124497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149244422	chr9:11124506-11124507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370786583	chr9:11124521-11124522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190451786	chr9:11124549-11124550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544858842	chr9:11124555-11124556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545515250	chr9:11124557-11124558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565404902	chr9:11124559-11124560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577744939	chr9:11124595-11124596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148838110	chr9:11127627-11127628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555457310	chr9:11127670-11127671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527509520	chr9:11127677-11127678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376722817	chr9:11127709-11127710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564369529	chr9:11127710-11127711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368270540	chr9:11127712-11127713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549318463	chr9:11127737-11127738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569317704	chr9:11127740-11127741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535165342	chr9:11127755-11127756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62529275	chr9:11127786-11127787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541018565	chr9:11127788-11127789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145251560	chr9:11127866-11127867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137903212	chr9:11127875-11127876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142345831	chr9:11127882-11127883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537355895	chr9:11127886-11127887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557383858	chr9:11127955-11127956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574129891	chr9:11127967-11127968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543123076	chr9:11128002-11128003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114782302	chr9:11128014-11128015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184849122	chr9:11128025-11128026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541190959	chr9:11128038-11128039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76241057	chr9:11128073-11128074	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11124200-11124600	Enhancers	Fetal Heart	heart
2	chr9:11127600-11127800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:11127800-11128800	Enhancers	NHEK	skin
4	chr9:11128400-11128600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:11130000-11130200	Enhancers	Fetal Lung	lung
6	chr9:11130200-11130800	Weak transcription	Fetal Lung	lung
7	chr9:11130800-11132000	Enhancers	Fetal Lung	lung
8	chr9:11132000-11136000	Weak transcription	Fetal Lung	lung
9	chr9:11135800-11136200	Enhancers	Fetal Heart	heart
10	chr9:11136000-11136400	Enhancers	Fetal Lung	lung
11	chr9:11136000-11136400	Enhancers	Ovary	ovary
12	chr9:11136000-11136400	Enhancers	Pancreas	Pancrea
13	chr9:11136000-11137000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:11140000-11141000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:11140600-11141000	Enhancers	Brain Hippocampus Middle	brain

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