Variant report

Variant	nsv516342
Chromosome Location	chr9:11155468-11159953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-3	chr9:11159533-11159565	XLOC_007645

Extended variants
information (count: 98 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571024822	chr9:11158234-11158235	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs533300598	chr9:11158235-11158236	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs144935575	chr9:11158263-11158264	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs1931422	chr9:11158296-11158297	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs79450042	chr9:11158309-11158310	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs1931423	chr9:11158314-11158315	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566235176	chr9:11158318-11158319	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs370630080	chr9:11158325-11158326	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs578220951	chr9:11158326-11158327	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs77238107	chr9:11158332-11158333	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs1931424	chr9:11158345-11158346	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs528655635	chr9:11158386-11158387	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs568614212	chr9:11158418-11158419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551996193	chr9:11158421-11158422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142043766	chr9:11158427-11158428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537707016	chr9:11158429-11158430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151227778	chr9:11158461-11158462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567291811	chr9:11158463-11158464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1931425	chr9:11158480-11158481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553031175	chr9:11158486-11158487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573050074	chr9:11158493-11158494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141389423	chr9:11158557-11158558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557894847	chr9:11158577-11158578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535175548	chr9:11158627-11158628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543673499	chr9:11158641-11158642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188330096	chr9:11158659-11158660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528878880	chr9:11158663-11158664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180757999	chr9:11158675-11158676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185598181	chr9:11158689-11158690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528229742	chr9:11158692-11158693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199994971	chr9:11158706-11158707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549572550	chr9:11158731-11158732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571764463	chr9:11158779-11158780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559117829	chr9:11158786-11158787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146986768	chr9:11158796-11158797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147626481	chr9:11158835-11158836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528078090	chr9:11158879-11158880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73641399	chr9:11158900-11158901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1931426	chr9:11158911-11158912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552992344	chr9:11158912-11158913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566763493	chr9:11158918-11158919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142168157	chr9:11158975-11158976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539077336	chr9:11159085-11159086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564790223	chr9:11159087-11159088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189962298	chr9:11159116-11159117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577732203	chr9:11159134-11159135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183756945	chr9:11159139-11159140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150437245	chr9:11159143-11159144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576589158	chr9:11159185-11159186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574030808	chr9:11159190-11159191	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11158200-11158400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:11158200-11158400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:11158400-11158800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:11158800-11159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:11159200-11160000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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