Variant report

Variant	esv3438414
Chromosome Location	chr8:5728593-5759620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:5745375..5747333-chr8:5749537..5752235,2	K562	blood:
2	chr8:5745375..5747333-chr8:5749537..5752235,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-6	chr8:5751155-5751303	XLOC_006982
2	lnc-ANGPT2-13	chr8:5738563-5738710	l_3534_chr8:5703213-5738710_testes
3	lnc-ANGPT2-6	chr8:5757144-5757253	XLOC_006982

Extended variants
information (count: 336 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533039441	chr8:5732804-5732805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186582310	chr8:5732814-5732815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150683037	chr8:5732837-5732838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78427210	chr8:5732843-5732844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543219780	chr8:5732845-5732846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192043179	chr8:5732849-5732850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528566672	chr8:5732874-5732875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181860454	chr8:5732895-5732896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565030315	chr8:5732938-5732939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139701408	chr8:5732948-5732949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550683542	chr8:5732949-5732950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116802240	chr8:5732958-5732959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149764977	chr8:5732960-5732961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548366417	chr8:5732961-5732962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78901034	chr8:5732965-5732966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371368824	chr8:5732973-5732974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558716276	chr8:5732974-5732975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144747286	chr8:5732984-5732985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537864488	chr8:5732999-5733000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555859629	chr8:5733001-5733002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575898019	chr8:5733019-5733020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542912370	chr8:5733034-5733035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554833936	chr8:5733046-5733047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112046199	chr8:5733050-5733051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375953015	chr8:5733053-5733054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116496732	chr8:5733055-5733056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565071497	chr8:5733065-5733066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532464524	chr8:5733085-5733086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544613758	chr8:5733120-5733121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139603168	chr8:5733123-5733124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530009012	chr8:5733141-5733142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548540710	chr8:5733148-5733149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566754516	chr8:5733149-5733150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527519967	chr8:5733151-5733152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552368556	chr8:5733181-5733182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57392994	chr8:5733186-5733187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144117439	chr8:5733188-5733189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556134582	chr8:5733206-5733207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189651668	chr8:5733218-5733219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535428001	chr8:5733220-5733221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537850485	chr8:5733222-5733223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565507672	chr8:5733227-5733228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554870762	chr8:5733231-5733232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182084350	chr8:5733233-5733234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187943039	chr8:5733236-5733237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75116820	chr8:5733243-5733244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11781503	chr8:5733247-5733248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60405165	chr8:5733263-5733264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368182442	chr8:5733278-5733279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571689054	chr8:5733281-5733282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5732800-5735400	Weak transcription	Fetal Heart	heart
2	chr8:5735400-5735600	Enhancers	Fetal Heart	heart
3	chr8:5755000-5755400	Active TSS	Hela-S3	cervix
4	chr8:5759400-5759600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:5759400-5759600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:5759600-5760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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