Variant report

Variant	nsv609982
Chromosome Location	chr8:5923666-5950104
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	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
3	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
4	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
5	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:

Extended variants
information (count: 789 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:789 , 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	rs4279617	chr8:5923666-5923667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528859011	chr8:5923687-5923688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180834538	chr8:5923714-5923715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2897871	chr8:5923715-5923716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184131807	chr8:5923757-5923758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189461909	chr8:5923766-5923767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181169377	chr8:5923780-5923781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186616063	chr8:5923801-5923802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142909988	chr8:5923818-5923819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190430517	chr8:5923825-5923826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562233958	chr8:5923827-5923828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531830450	chr8:5923846-5923847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77460248	chr8:5923865-5923866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571772760	chr8:5923866-5923867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181629566	chr8:5923880-5923881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73510256	chr8:5923901-5923902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537323043	chr8:5923917-5923918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186242546	chr8:5923930-5923931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576074566	chr8:5923950-5923951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372438008	chr8:5923962-5923963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7842817	chr8:5923975-5923976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555447286	chr8:5923993-5923994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572161412	chr8:5924061-5924062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369419662	chr8:5924071-5924072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569946143	chr8:5924082-5924083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370660595	chr8:5924088-5924089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541155858	chr8:5924089-5924090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145836239	chr8:5924105-5924106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10676972	chr8:5924126-5924127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534795145	chr8:5924131-5924132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548041451	chr8:5924132-5924133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564102043	chr8:5924142-5924143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75567775	chr8:5924156-5924157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190736087	chr8:5924158-5924159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114356575	chr8:5924164-5924165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563249740	chr8:5924183-5924184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529205800	chr8:5924209-5924210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138985904	chr8:5924267-5924268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141461690	chr8:5924275-5924276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528564897	chr8:5924313-5924314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551879457	chr8:5924314-5924315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372083956	chr8:5924327-5924328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4875218	chr8:5924333-5924334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs56028045	chr8:5924381-5924382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115485528	chr8:5924390-5924391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184062517	chr8:5924398-5924399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150858037	chr8:5924402-5924403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185847734	chr8:5924413-5924414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191095299	chr8:5924426-5924427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534389008	chr8:5924445-5924446	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5923200-5925200	Enhancers	Fetal Brain Male	brain
2	chr8:5923600-5923800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr8:5923600-5924000	Enhancers	Fetal Brain Female	brain
4	chr8:5929800-5930800	Enhancers	Fetal Heart	heart
5	chr8:5930800-5934200	Weak transcription	Fetal Heart	heart
6	chr8:5931400-5932600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:5932000-5932400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:5932000-5932400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:5932600-5935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:5934000-5934200	Active TSS	Brain Hippocampus Middle	brain
11	chr8:5934200-5934400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr8:5934200-5934600	Enhancers	Brain Anterior Caudate	brain
13	chr8:5934200-5934800	Enhancers	Fetal Heart	heart
14	chr8:5934400-5934600	Enhancers	Adipose Nuclei	Adipose
15	chr8:5934400-5934800	Enhancers	Fetal Brain Male	brain
16	chr8:5935800-5936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:5936200-5936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:5942800-5943200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:5949000-5949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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