Variant report

Variant	nsv1034164
Chromosome Location	chr8:5794538-5857921
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	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:

Extended variants
information (count: 1685 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:1685 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143748117	chr8:5794562-5794563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369217330	chr8:5794595-5794596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547061881	chr8:5794601-5794602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567192338	chr8:5794604-5794605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573998195	chr8:5794625-5794626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147211676	chr8:5794665-5794666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140326244	chr8:5794671-5794672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189195308	chr8:5794680-5794681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538359090	chr8:5794682-5794683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537150007	chr8:5794704-5794705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556594912	chr8:5794707-5794708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568442948	chr8:5794740-5794741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535880157	chr8:5794766-5794767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553871299	chr8:5794774-5794775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368893658	chr8:5796202-5796203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577786697	chr8:5796209-5796210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545173317	chr8:5796215-5796216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532797263	chr8:5796217-5796218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563667691	chr8:5796240-5796241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2703274	chr8:5796277-5796278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542703688	chr8:5796279-5796280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561288679	chr8:5796315-5796316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528407781	chr8:5796327-5796328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566234062	chr8:5796337-5796338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571491484	chr8:5796367-5796368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191715227	chr8:5796405-5796406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550741236	chr8:5796417-5796418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184014389	chr8:5796419-5796420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117462767	chr8:5796446-5796447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376059636	chr8:5796488-5796489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536295799	chr8:5796491-5796492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554277518	chr8:5796496-5796497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188755634	chr8:5796513-5796514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566096456	chr8:5796520-5796521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368444210	chr8:5796523-5796524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535006226	chr8:5796529-5796530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553278474	chr8:5796556-5796557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577902188	chr8:5796584-5796585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554488144	chr8:5796588-5796589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545238454	chr8:5796592-5796593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563441255	chr8:5806602-5806603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530508140	chr8:5806609-5806610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2840484	chr8:5806629-5806630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560744437	chr8:5806657-5806658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528042150	chr8:5806666-5806667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371177752	chr8:5806681-5806682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565983474	chr8:5806682-5806683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185014550	chr8:5806695-5806696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551549914	chr8:5806706-5806707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570164782	chr8:5806709-5806710	Weak transcription	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5792200-5794800	Enhancers	Dnd41	blood
2	chr8:5796200-5796600	Enhancers	Fetal Heart	heart
3	chr8:5806600-5809600	Weak transcription	Fetal Heart	heart
4	chr8:5809600-5810800	Enhancers	Fetal Heart	heart
5	chr8:5815200-5816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:5815400-5816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:5815600-5815800	Weak transcription	Fetal Heart	heart
8	chr8:5815800-5816000	Enhancers	Fetal Heart	heart
9	chr8:5816000-5818600	Weak transcription	Fetal Heart	heart
10	chr8:5816000-5819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:5816000-5819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:5818600-5820600	Enhancers	Fetal Heart	heart
13	chr8:5819200-5820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:5819400-5820600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:5819600-5820800	Enhancers	Fetal Brain Male	brain
16	chr8:5819800-5820200	Enhancers	Fetal Lung	lung
17	chr8:5819800-5820800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:5820000-5821600	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:5820200-5820600	Enhancers	Brain Germinal Matrix	brain
20	chr8:5820200-5820600	Enhancers	Fetal Brain Female	brain
21	chr8:5820200-5820600	Weak transcription	Fetal Lung	lung
22	chr8:5820600-5820800	Enhancers	Fetal Lung	lung
23	chr8:5820600-5821000	Enhancers	Brain Anterior Caudate	brain
24	chr8:5820600-5821000	Active TSS	Fetal Brain Female	brain
25	chr8:5820600-5821200	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr8:5820600-5821200	Enhancers	Brain Substantia Nigra	brain
27	chr8:5820600-5821200	Flanking Active TSS	Fetal Heart	heart
28	chr8:5820600-5821400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:5820600-5821600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:5820600-5821600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:5820800-5821000	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:5820800-5821000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:5820800-5821200	Active TSS	Adipose Nuclei	Adipose
34	chr8:5820800-5821200	Enhancers	Aorta	Aorta
35	chr8:5820800-5821200	Enhancers	Brain Angular Gyrus	brain
36	chr8:5820800-5821200	Active TSS	Brain Hippocampus Middle	brain
37	chr8:5820800-5821200	Flanking Active TSS	Fetal Brain Male	brain
38	chr8:5820800-5821200	Enhancers	Lung	lung
39	chr8:5820800-5821200	Enhancers	NH-A	brain
40	chr8:5820800-5821400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr8:5820800-5821400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:5820800-5821400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:5820800-5821400	Flanking Active TSS	Fetal Lung	lung
44	chr8:5820800-5821400	Enhancers	Fetal Stomach	stomach
45	chr8:5820800-5821600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:5821000-5821400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr8:5821000-5821400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr8:5821000-5821400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:5821000-5821400	Flanking Active TSS	Fetal Brain Female	brain
50	chr8:5821000-5821600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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