Variant report

Variant	nsv613418
Chromosome Location	chr9:11175887-11210214
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	chr9:11194276-11194381	XLOC_007645

Extended variants
information (count: 523 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:523 , 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	rs140446213	chr9:11181819-11181820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528018539	chr9:11181827-11181828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182877867	chr9:11181837-11181838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369968988	chr9:11181880-11181881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539365001	chr9:11181908-11181909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187727135	chr9:11181919-11181920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575734653	chr9:11181920-11181921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117394775	chr9:11181947-11181948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550983870	chr9:11181952-11181953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554802594	chr9:11181961-11181962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574883013	chr9:11181974-11181975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542411056	chr9:11181978-11181979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143600113	chr9:11181979-11181980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377293942	chr9:11181987-11181988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191405452	chr9:11182005-11182006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148041127	chr9:11182022-11182023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564518469	chr9:11182028-11182029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2046765	chr9:11182058-11182059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12004689	chr9:11182062-11182063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560784181	chr9:11182118-11182119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566408494	chr9:11182119-11182120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529802546	chr9:11182120-11182121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184271234	chr9:11182127-11182128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567072296	chr9:11182169-11182170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546298415	chr9:11182218-11182219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552948673	chr9:11182227-11182228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569262818	chr9:11182241-11182242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538199385	chr9:11182243-11182244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548104824	chr9:11182263-11182264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568432986	chr9:11182288-11182289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188613103	chr9:11182308-11182309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12002667	chr9:11182369-11182370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192217764	chr9:11182398-11182399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530074699	chr9:11194001-11194002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546691615	chr9:11194005-11194006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142327480	chr9:11194014-11194015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111539129	chr9:11194029-11194030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139000159	chr9:11194052-11194053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572830390	chr9:11194055-11194056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10125755	chr9:11194115-11194116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565524260	chr9:11194117-11194118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7465994	chr9:11194132-11194133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142144714	chr9:11194149-11194150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567240831	chr9:11194186-11194187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73403199	chr9:11194222-11194223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543906249	chr9:11194236-11194237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10809379	chr9:11194239-11194240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146350328	chr9:11194292-11194293	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs529327323	chr9:11194334-11194335	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs559192111	chr9:11194348-11194349	Enhancers	lncRNA	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11181800-11182400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:11194000-11194600	Enhancers	Fetal Brain Male	brain
3	chr9:11194200-11194400	Enhancers	Brain Germinal Matrix	brain
4	chr9:11194200-11195000	Enhancers	Fetal Brain Female	brain
5	chr9:11194400-11195200	Weak transcription	Brain Germinal Matrix	brain
6	chr9:11195200-11196200	Enhancers	Brain Germinal Matrix	brain
7	chr9:11196000-11196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:11196800-11197200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:11197200-11203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:11199000-11199800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:11199200-11199800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:11199200-11199800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:11199200-11200400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:11199400-11199800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr9:11199600-11200400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:11207600-11207800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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