Variant report

Variant	nsv1034473
Chromosome Location	chr8:5920480-5943185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
2	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
3	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
4	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
5	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-3	chr8:5923520-5923650	XLOC_006984

Variant related genes	Relation type
ACVR2A	miRNA target sites

Extended variants
information (count: 797 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4875695	chr8:5920480-5920481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189005407	chr8:5920481-5920482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532685200	chr8:5920495-5920496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113962558	chr8:5920503-5920504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57471683	chr8:5920514-5920515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372615489	chr8:5920525-5920526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142194600	chr8:5920528-5920529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561897965	chr8:5920535-5920536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190727656	chr8:5920542-5920543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145839792	chr8:5920546-5920547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56260901	chr8:5920562-5920563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559643426	chr8:5920563-5920564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567728795	chr8:5920572-5920573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77069635	chr8:5920575-5920576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201657851	chr8:5920577-5920578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552765926	chr8:5920582-5920583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536852038	chr8:5920589-5920590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4875696	chr8:5920629-5920630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs138737286	chr8:5920636-5920637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539385300	chr8:5920652-5920653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386721687	chr8:5920665-5920666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28606992	chr8:5920666-5920667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371724625	chr8:5920730-5920731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556071055	chr8:5920733-5920734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183238352	chr8:5920753-5920754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557043162	chr8:5920766-5920767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186558935	chr8:5920780-5920781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141080178	chr8:5920782-5920783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191336843	chr8:5920790-5920791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572797851	chr8:5920791-5920792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143446883	chr8:5920802-5920803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565112715	chr8:5920824-5920825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530956259	chr8:5920843-5920844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147993589	chr8:5920844-5920845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544463079	chr8:5920846-5920847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62494517	chr8:5920924-5920925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577584632	chr8:5920930-5920931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547211723	chr8:5920950-5920951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141570655	chr8:5920970-5920971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370810522	chr8:5920974-5920975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183920378	chr8:5921039-5921040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552864972	chr8:5921071-5921072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188089843	chr8:5921075-5921076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150912570	chr8:5921078-5921079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77143876	chr8:5921081-5921082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376395221	chr8:5921084-5921085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138393534	chr8:5921096-5921097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573406614	chr8:5921097-5921098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535991232	chr8:5921103-5921104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552740504	chr8:5921108-5921109	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5918000-5921000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:5921000-5921400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:5923200-5925200	Enhancers	Fetal Brain Male	brain
4	chr8:5923600-5923800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:5923600-5924000	Enhancers	Fetal Brain Female	brain
6	chr8:5929800-5930800	Enhancers	Fetal Heart	heart
7	chr8:5930800-5934200	Weak transcription	Fetal Heart	heart
8	chr8:5931400-5932600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:5932000-5932400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:5932000-5932400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:5932600-5935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:5934000-5934200	Active TSS	Brain Hippocampus Middle	brain
13	chr8:5934200-5934400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr8:5934200-5934600	Enhancers	Brain Anterior Caudate	brain
15	chr8:5934200-5934800	Enhancers	Fetal Heart	heart
16	chr8:5934400-5934600	Enhancers	Adipose Nuclei	Adipose
17	chr8:5934400-5934800	Enhancers	Fetal Brain Male	brain
18	chr8:5935800-5936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:5936200-5936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:5942800-5943200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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