Variant report

Variant	nsv1030702
Chromosome Location	chr8:5941490-5958952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-3	chr8:5957850-5957973	ENSG00000253880

Extended variants
information (count: 369 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192544585	chr8:5942821-5942822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368941882	chr8:5942847-5942848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183601774	chr8:5942854-5942855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9987312	chr8:5942863-5942864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553281780	chr8:5942899-5942900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140470140	chr8:5942900-5942901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573195942	chr8:5942908-5942909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149721997	chr8:5942919-5942920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17076003	chr8:5942924-5942925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372919235	chr8:5942927-5942928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189534734	chr8:5942930-5942931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181140314	chr8:5942935-5942936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555546333	chr8:5942937-5942938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186698105	chr8:5942939-5942940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144470709	chr8:5942943-5942944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535818747	chr8:5942949-5942950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189911497	chr8:5942962-5942963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566137721	chr8:5942971-5942972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13257249	chr8:5942981-5942982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544290118	chr8:5942998-5942999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148428448	chr8:5943013-5943014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369235859	chr8:5943016-5943017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550889582	chr8:5943043-5943044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571861617	chr8:5943050-5943051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537690504	chr8:5943069-5943070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557613467	chr8:5943114-5943115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181716718	chr8:5943115-5943116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541771941	chr8:5943121-5943122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555088423	chr8:5943122-5943123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571759789	chr8:5943157-5943158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532748519	chr8:5943159-5943160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9987355	chr8:5943185-5943186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150925418	chr8:5943196-5943197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564436172	chr8:5949005-5949006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs533161040	chr8:5949006-5949007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554537234	chr8:5949031-5949032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs192558048	chr8:5949044-5949045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574690404	chr8:5949051-5949052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140873186	chr8:5949063-5949064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs7014524	chr8:5949064-5949065	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549560009	chr8:5949065-5949066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113866705	chr8:5949069-5949070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535248397	chr8:5949085-5949086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551771087	chr8:5949092-5949093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374967133	chr8:5949096-5949097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183618090	chr8:5949100-5949101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs539032804	chr8:5949110-5949111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555740150	chr8:5949121-5949122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs189269738	chr8:5949125-5949126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181153139	chr8:5949134-5949135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5942800-5943200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:5949000-5949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:5952600-5953000	Enhancers	Fetal Brain Female	brain
4	chr8:5952800-5954400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:5953000-5954000	Weak transcription	Fetal Brain Female	brain
6	chr8:5953400-5954200	Enhancers	Brain Substantia Nigra	brain
7	chr8:5953600-5954000	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:5954000-5954200	Enhancers	Fetal Brain Male	brain
9	chr8:5954200-5954400	Enhancers	Fetal Brain Female	brain
10	chr8:5954200-5955400	Weak transcription	Fetal Brain Male	brain

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