Variant report

Variant	nsv1021148
Chromosome Location	chr8:5920859-5943185
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..5935981-chr8:5937353..5939270,2	K562	blood:
3	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
4	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
5	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:

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: 762 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:762 , 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	rs62494517	chr8:5920924-5920925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577584632	chr8:5920930-5920931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547211723	chr8:5920950-5920951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141570655	chr8:5920970-5920971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370810522	chr8:5920974-5920975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183920378	chr8:5921039-5921040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552864972	chr8:5921071-5921072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188089843	chr8:5921075-5921076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150912570	chr8:5921078-5921079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77143876	chr8:5921081-5921082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376395221	chr8:5921084-5921085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138393534	chr8:5921096-5921097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573406614	chr8:5921097-5921098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535991232	chr8:5921103-5921104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552740504	chr8:5921108-5921109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369224574	chr8:5921120-5921121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572727917	chr8:5921131-5921132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72584119	chr8:5921166-5921167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201675346	chr8:5921167-5921168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73184675	chr8:5921168-5921169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78783738	chr8:5921212-5921213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142974462	chr8:5921230-5921231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77252777	chr8:5921237-5921238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371429813	chr8:5921240-5921241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193093182	chr8:5921253-5921254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59364526	chr8:5921262-5921263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550862232	chr8:5921278-5921279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570485260	chr8:5921311-5921312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113329913	chr8:5921317-5921318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527922265	chr8:5921397-5921398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545486035	chr8:5923217-5923218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187904176	chr8:5923261-5923262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192542120	chr8:5923274-5923275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369350229	chr8:5923284-5923285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549512176	chr8:5923295-5923296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552301991	chr8:5923302-5923303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541980953	chr8:5923308-5923309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs714453	chr8:5923322-5923323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553889242	chr8:5923337-5923338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73184678	chr8:5923340-5923341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547681099	chr8:5923343-5923344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149039041	chr8:5923350-5923351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184976074	chr8:5923374-5923375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533304654	chr8:5923432-5923433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187407829	chr8:5923462-5923463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386721688	chr8:5923471-5923472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2897873	chr8:5923472-5923473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs199920048	chr8:5923489-5923490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397946926	chr8:5923498-5923499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556675350	chr8:5923510-5923511	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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