Variant report

Variant	nsv890021
Chromosome Location	chr8:5733247-5760241
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-ANGPT2-13	chr8:5738563-5738710	l_3534_chr8:5703213-5738710_testes
2	lnc-ANGPT2-6	chr8:5751155-5751303	XLOC_006982
3	lnc-ANGPT2-6	chr8:5757144-5757253	XLOC_006982

Extended variants
information (count: 342 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:342 , 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	rs11781503	chr8:5733247-5733248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60405165	chr8:5733263-5733264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368182442	chr8:5733278-5733279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571689054	chr8:5733281-5733282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544337096	chr8:5733292-5733293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371614614	chr8:5733314-5733315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115101031	chr8:5733315-5733316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57657335	chr8:5733344-5733345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs57918543	chr8:5733350-5733351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77406583	chr8:5733361-5733362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552405226	chr8:5733370-5733371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552919387	chr8:5733386-5733387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376682960	chr8:5733389-5733390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531524694	chr8:5733399-5733400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573009792	chr8:5733400-5733401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190983365	chr8:5733407-5733408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183299576	chr8:5733409-5733410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535113974	chr8:5733414-5733415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58208158	chr8:5733424-5733425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566844102	chr8:5733429-5733430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575571273	chr8:5733432-5733433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534174577	chr8:5733436-5733437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544267854	chr8:5733449-5733450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558733961	chr8:5733457-5733458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372253466	chr8:5733480-5733481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552367839	chr8:5733514-5733515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577402453	chr8:5733523-5733524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188374194	chr8:5733524-5733525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556419643	chr8:5733540-5733541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192282406	chr8:5733546-5733547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542268354	chr8:5733550-5733551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184865322	chr8:5733557-5733558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572381348	chr8:5733579-5733580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546161626	chr8:5733581-5733582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60573847	chr8:5733625-5733626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564403947	chr8:5733637-5733638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577695600	chr8:5733674-5733675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531433947	chr8:5733679-5733680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56781194	chr8:5733680-5733681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561643369	chr8:5733696-5733697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559956102	chr8:5733733-5733734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529465873	chr8:5733745-5733746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528927661	chr8:5733748-5733749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549117926	chr8:5733767-5733768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545720809	chr8:5733771-5733772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201418788	chr8:5733772-5733773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565294698	chr8:5733779-5733780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187756294	chr8:5733828-5733829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552639260	chr8:5733851-5733852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571100397	chr8:5733863-5733864	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:8 , 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
7	chr8:5759800-5761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:5760200-5761600	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links