Variant report

Variant	nsv890024
Chromosome Location	chr8:5809543-5846580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1358 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:1358 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2703301	chr8:5809543-5809544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539437857	chr8:5809553-5809554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551585833	chr8:5809556-5809557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1961985	chr8:5809562-5809563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141873661	chr8:5809592-5809593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17075323	chr8:5809596-5809597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567636976	chr8:5809599-5809600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534934016	chr8:5809602-5809603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553265080	chr8:5809606-5809607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542313448	chr8:5809609-5809610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145554021	chr8:5809627-5809628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186695292	chr8:5809670-5809671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143803823	chr8:5809681-5809682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148094701	chr8:5809692-5809693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575284904	chr8:5809695-5809696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191707512	chr8:5809714-5809715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370387301	chr8:5809732-5809733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560569983	chr8:5809745-5809746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374411075	chr8:5809753-5809754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183120368	chr8:5809767-5809768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541333289	chr8:5809770-5809771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559948970	chr8:5809781-5809782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563431696	chr8:5809813-5809814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532396073	chr8:5809818-5809819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141832677	chr8:5809823-5809824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138803810	chr8:5809839-5809840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186292193	chr8:5809856-5809857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141997491	chr8:5809885-5809886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146246554	chr8:5809887-5809888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2703302	chr8:5809891-5809892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534970851	chr8:5809909-5809910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3922749	chr8:5809943-5809944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139271124	chr8:5809968-5809969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538494717	chr8:5810007-5810008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59858530	chr8:5810012-5810013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575316259	chr8:5810017-5810018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547868897	chr8:5810020-5810021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191074881	chr8:5810024-5810025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554202240	chr8:5810035-5810036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79819866	chr8:5810044-5810045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116216472	chr8:5810049-5810050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559834675	chr8:5810066-5810067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182266780	chr8:5810083-5810084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186976478	chr8:5810084-5810085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372025634	chr8:5810107-5810108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545350158	chr8:5810112-5810113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114972194	chr8:5810151-5810152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10091873	chr8:5810160-5810161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2703303	chr8:5810167-5810168	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370310916	chr8:5810203-5810204	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5806600-5809600	Weak transcription	Fetal Heart	heart
2	chr8:5809600-5810800	Enhancers	Fetal Heart	heart
3	chr8:5815200-5816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:5815400-5816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:5815600-5815800	Weak transcription	Fetal Heart	heart
6	chr8:5815800-5816000	Enhancers	Fetal Heart	heart
7	chr8:5816000-5818600	Weak transcription	Fetal Heart	heart
8	chr8:5816000-5819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:5816000-5819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:5818600-5820600	Enhancers	Fetal Heart	heart
11	chr8:5819200-5820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:5819400-5820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:5819600-5820800	Enhancers	Fetal Brain Male	brain
14	chr8:5819800-5820200	Enhancers	Fetal Lung	lung
15	chr8:5819800-5820800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:5820000-5821600	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:5820200-5820600	Enhancers	Brain Germinal Matrix	brain
18	chr8:5820200-5820600	Enhancers	Fetal Brain Female	brain
19	chr8:5820200-5820600	Weak transcription	Fetal Lung	lung
20	chr8:5820600-5820800	Enhancers	Fetal Lung	lung
21	chr8:5820600-5821000	Enhancers	Brain Anterior Caudate	brain
22	chr8:5820600-5821000	Active TSS	Fetal Brain Female	brain
23	chr8:5820600-5821200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr8:5820600-5821200	Enhancers	Brain Substantia Nigra	brain
25	chr8:5820600-5821200	Flanking Active TSS	Fetal Heart	heart
26	chr8:5820600-5821400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:5820600-5821600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:5820600-5821600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:5820800-5821000	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:5820800-5821000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:5820800-5821200	Active TSS	Adipose Nuclei	Adipose
32	chr8:5820800-5821200	Enhancers	Aorta	Aorta
33	chr8:5820800-5821200	Enhancers	Brain Angular Gyrus	brain
34	chr8:5820800-5821200	Active TSS	Brain Hippocampus Middle	brain
35	chr8:5820800-5821200	Flanking Active TSS	Fetal Brain Male	brain
36	chr8:5820800-5821200	Enhancers	Lung	lung
37	chr8:5820800-5821200	Enhancers	NH-A	brain
38	chr8:5820800-5821400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr8:5820800-5821400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:5820800-5821400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:5820800-5821400	Flanking Active TSS	Fetal Lung	lung
42	chr8:5820800-5821400	Enhancers	Fetal Stomach	stomach
43	chr8:5820800-5821600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:5821000-5821400	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr8:5821000-5821400	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr8:5821000-5821400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:5821000-5821400	Flanking Active TSS	Fetal Brain Female	brain
48	chr8:5821000-5821600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:5821200-5821400	Enhancers	Adipose Nuclei	Adipose
50	chr8:5821200-5821400	Flanking Active TSS	Brain Hippocampus Middle	brain

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