Variant report

Variant	nsv1023744
Chromosome Location	chr8:5820967-5861566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-5	chr8:5860524-5860623	XLOC_006983
2	lnc-ANGPT2-5	chr8:5858959-5859084	XLOC_006983

Extended variants
information (count: 996 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17075393	chr8:5820967-5820968	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181688306	chr8:5820987-5820988	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs570874681	chr8:5821017-5821018	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537832766	chr8:5821041-5821042	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550074547	chr8:5821042-5821043	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186263883	chr8:5821076-5821077	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535711783	chr8:5821125-5821126	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190947285	chr8:5821133-5821134	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183520113	chr8:5821134-5821135	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539566527	chr8:5821202-5821203	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538898219	chr8:5821216-5821217	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs17456613	chr8:5821240-5821241	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375685739	chr8:5821241-5821242	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190665932	chr8:5821242-5821243	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537494907	chr8:5821244-5821245	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574810367	chr8:5821245-5821246	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542079880	chr8:5821280-5821281	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs3990114	chr8:5821283-5821284	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2816419	chr8:5821287-5821288	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527880720	chr8:5821288-5821289	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546322114	chr8:5821289-5821290	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564399087	chr8:5821290-5821291	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531800637	chr8:5821295-5821296	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549921641	chr8:5821307-5821308	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs17365775	chr8:5821309-5821310	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs529204765	chr8:5821340-5821341	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572617787	chr8:5821348-5821349	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114741720	chr8:5821350-5821351	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539241536	chr8:5821377-5821378	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs557862322	chr8:5821410-5821411	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2816420	chr8:5821416-5821417	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371960139	chr8:5821441-5821442	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs117790882	chr8:5821442-5821443	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537115343	chr8:5821458-5821459	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117972053	chr8:5821468-5821469	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145481231	chr8:5821486-5821487	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375831811	chr8:5821487-5821488	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531134688	chr8:5821493-5821494	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs367800430	chr8:5821499-5821500	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs554037013	chr8:5821524-5821525	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73513952	chr8:5821527-5821528	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374175722	chr8:5821530-5821531	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs147689884	chr8:5821536-5821537	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577953637	chr8:5821540-5821541	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564812452	chr8:5821546-5821547	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529176652	chr8:5821618-5821619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182871067	chr8:5821619-5821620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533622337	chr8:5821622-5821623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547038908	chr8:5821623-5821624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531719908	chr8:5821639-5821640	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5820000-5821600	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:5820600-5821000	Enhancers	Brain Anterior Caudate	brain
3	chr8:5820600-5821000	Active TSS	Fetal Brain Female	brain
4	chr8:5820600-5821200	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr8:5820600-5821200	Enhancers	Brain Substantia Nigra	brain
6	chr8:5820600-5821200	Flanking Active TSS	Fetal Heart	heart
7	chr8:5820600-5821400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:5820600-5821600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:5820600-5821600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:5820800-5821000	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:5820800-5821000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:5820800-5821200	Active TSS	Adipose Nuclei	Adipose
13	chr8:5820800-5821200	Enhancers	Aorta	Aorta
14	chr8:5820800-5821200	Enhancers	Brain Angular Gyrus	brain
15	chr8:5820800-5821200	Active TSS	Brain Hippocampus Middle	brain
16	chr8:5820800-5821200	Flanking Active TSS	Fetal Brain Male	brain
17	chr8:5820800-5821200	Enhancers	Lung	lung
18	chr8:5820800-5821200	Enhancers	NH-A	brain
19	chr8:5820800-5821400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:5820800-5821400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:5820800-5821400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:5820800-5821400	Flanking Active TSS	Fetal Lung	lung
23	chr8:5820800-5821400	Enhancers	Fetal Stomach	stomach
24	chr8:5820800-5821600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:5821000-5821400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr8:5821000-5821400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr8:5821000-5821400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:5821000-5821400	Flanking Active TSS	Fetal Brain Female	brain
29	chr8:5821000-5821600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:5821200-5821400	Enhancers	Adipose Nuclei	Adipose
31	chr8:5821200-5821400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr8:5821200-5821400	Enhancers	Fetal Brain Male	brain
33	chr8:5821200-5822200	Enhancers	Fetal Heart	heart
34	chr8:5821400-5821800	Enhancers	Fetal Lung	lung
35	chr8:5821400-5822200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:5821600-5822200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:5821800-5827000	Weak transcription	Fetal Lung	lung
38	chr8:5822200-5826600	Weak transcription	Fetal Heart	heart
39	chr8:5826600-5827400	Flanking Active TSS	Fetal Heart	heart
40	chr8:5827000-5827400	Enhancers	Fetal Lung	lung
41	chr8:5827000-5828200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:5827200-5828000	Enhancers	Fetal Muscle Leg	muscle
43	chr8:5827400-5828600	Enhancers	Fetal Heart	heart
44	chr8:5827600-5827800	Enhancers	Fetal Stomach	stomach
45	chr8:5828000-5828200	Enhancers	Liver	Liver
46	chr8:5828600-5830400	Weak transcription	Fetal Heart	heart
47	chr8:5830400-5831200	Enhancers	Fetal Heart	heart
48	chr8:5847200-5847600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:5847800-5848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:5858800-5860000	Enhancers	Placenta Amnion	Placenta Amnion

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