Variant report

Variant	nsv890036
Chromosome Location	chr8:5935576-5981709
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	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:

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

Extended variants
information (count: 2019 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:2019 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17075959	chr8:5935576-5935577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143296120	chr8:5935601-5935602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147542503	chr8:5935605-5935606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568274295	chr8:5935609-5935610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140051082	chr8:5935633-5935634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576607258	chr8:5935639-5935640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3750239	chr8:5935657-5935658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6993152	chr8:5935671-5935672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs565298120	chr8:5935688-5935689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371381910	chr8:5935689-5935690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568765528	chr8:5935727-5935728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537902370	chr8:5935737-5935738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534120288	chr8:5935742-5935743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77014917	chr8:5935751-5935752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17075966	chr8:5935813-5935814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540407830	chr8:5935824-5935825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553718203	chr8:5935870-5935871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561297440	chr8:5935877-5935878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190936872	chr8:5935885-5935886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577034820	chr8:5935906-5935907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545802409	chr8:5935918-5935919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562852871	chr8:5935927-5935928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182749678	chr8:5935945-5935946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185664145	chr8:5935946-5935947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541861386	chr8:5935972-5935973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368474746	chr8:5935979-5935980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190080911	chr8:5936011-5936012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540411037	chr8:5936030-5936031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547566296	chr8:5936045-5936046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182688393	chr8:5936082-5936083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533647231	chr8:5936187-5936188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550218683	chr8:5936188-5936189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570369177	chr8:5936205-5936206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35008487	chr8:5936210-5936211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187402572	chr8:5936213-5936214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59953966	chr8:5936222-5936223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568147446	chr8:5936224-5936225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12386933	chr8:5936257-5936258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555695827	chr8:5936259-5936260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576969414	chr8:5936355-5936356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539678099	chr8:5936366-5936367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556174567	chr8:5936369-5936370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575975869	chr8:5936401-5936402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75810073	chr8:5936406-5936407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375166853	chr8:5936422-5936423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142929864	chr8:5936423-5936424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541185439	chr8:5936450-5936451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192296615	chr8:5936456-5936457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183974341	chr8:5936472-5936473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115770711	chr8:5936482-5936483	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5932600-5935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:5935800-5936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:5936200-5936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:5942800-5943200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:5949000-5949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:5952600-5953000	Enhancers	Fetal Brain Female	brain
7	chr8:5952800-5954400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:5953000-5954000	Weak transcription	Fetal Brain Female	brain
9	chr8:5953400-5954200	Enhancers	Brain Substantia Nigra	brain
10	chr8:5953600-5954000	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:5954000-5954200	Enhancers	Fetal Brain Male	brain
12	chr8:5954200-5954400	Enhancers	Fetal Brain Female	brain
13	chr8:5954200-5955400	Weak transcription	Fetal Brain Male	brain
14	chr8:5962200-5979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:5973000-5973600	Enhancers	Brain Anterior Caudate	brain
16	chr8:5973000-5973800	Enhancers	Brain Hippocampus Middle	brain
17	chr8:5973000-5974000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:5973200-5973600	Enhancers	Brain Substantia Nigra	brain
19	chr8:5973600-5974200	Weak transcription	Brain Anterior Caudate	brain
20	chr8:5974200-5974400	Enhancers	Brain Anterior Caudate	brain
21	chr8:5979000-5979200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:5979000-5979200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:5979200-5983200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:5981400-5981800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:5981400-5981800	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:5981600-5982000	Enhancers	Brain Hippocampus Middle	brain
27	chr8:5981600-5982000	Enhancers	Brain Inferior Temporal Lobe	brain

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