Variant report

Variant	nsv428513
Chromosome Location	chr8:4435878-4613986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:
2	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:
3	chr8:4501243..4502892-chr8:4505644..4507988,2	K562	blood:
4	chr3:145223411..145224951-chr8:4505239..4506739,2	K562	blood:
5	chr21:30519178..30519958-chr8:4582339..4582839,2	MCF-7	breast:
6	chr8:4501243..4502892-chr8:4505644..4507988,2	K562	blood:
7	chr2:220553002..220553652-chr8:4562250..4563228,2	HCT-116	colon:

Extended variants
information (count: 9190 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:9190 , 50 per page) page: 1 2 3 4 5 6 7 ... 184

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528001252	chr8:4437419-4437420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10097669	chr8:4437465-4437466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs185569179	chr8:4437502-4437503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559878524	chr8:4437508-4437509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531364139	chr8:4437527-4437528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17070649	chr8:4437565-4437566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2725065	chr8:4437566-4437567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535232178	chr8:4437571-4437572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547192103	chr8:4437575-4437576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190042654	chr8:4437608-4437609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539337467	chr8:4437632-4437633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77587319	chr8:4437643-4437644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144272467	chr8:4437653-4437654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201739317	chr8:4437654-4437655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538285350	chr8:4437661-4437662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373012503	chr8:4437664-4437665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181626354	chr8:4437673-4437674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574993288	chr8:4437682-4437683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542415921	chr8:4437717-4437718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560533735	chr8:4437720-4437721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376228051	chr8:4437741-4437742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186350044	chr8:4437742-4437743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564844416	chr8:4437758-4437759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146107139	chr8:4437774-4437775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58707456	chr8:4437780-4437781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532491162	chr8:4437782-4437783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530179727	chr8:4437801-4437802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528976407	chr8:4437828-4437829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547503977	chr8:4437838-4437839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565714964	chr8:4437857-4437858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374709118	chr8:4437865-4437866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79618365	chr8:4437870-4437871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531404408	chr8:4437873-4437874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188653013	chr8:4437878-4437879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538197407	chr8:4437908-4437909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556619904	chr8:4437930-4437931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551131286	chr8:4437950-4437951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568535795	chr8:4437956-4437957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139914413	chr8:4437978-4437979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181003270	chr8:4437987-4437988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76173518	chr8:4437995-4437996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376597647	chr8:4437998-4437999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78121604	chr8:4437999-4438000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141229328	chr8:4439225-4439226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190437427	chr8:4439226-4439227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536255820	chr8:4439234-4439235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550121578	chr8:4439245-4439246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540518410	chr8:4439258-4439259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541826626	chr8:4439269-4439270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528628120	chr8:4439272-4439273	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
Ductal carcinoma	22052326	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
Breast cancer	21364760	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
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4437400-4438000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:4437600-4438000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:4439200-4440200	Enhancers	Fetal Heart	heart
4	chr8:4440200-4440800	Enhancers	Right Ventricle	heart
5	chr8:4440200-4444000	Weak transcription	Fetal Heart	heart
6	chr8:4444000-4444800	Enhancers	Fetal Heart	heart
7	chr8:4462200-4462400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:4464000-4464400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:4468200-4471000	Enhancers	Fetal Heart	heart
10	chr8:4469200-4469800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:4470800-4471000	Enhancers	Pancreas	Pancrea
12	chr8:4470800-4471200	Enhancers	Fetal Muscle Leg	muscle
13	chr8:4479800-4480000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:4479800-4480000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:4479800-4480000	Enhancers	Fetal Muscle Leg	muscle
16	chr8:4479800-4480200	Active TSS	Brain Angular Gyrus	brain
17	chr8:4479800-4480200	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:4479800-4480200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:4479800-4480200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:4479800-4480200	Active TSS	Brain Substantia Nigra	brain
21	chr8:4479800-4480400	Active TSS	Brain Hippocampus Middle	brain
22	chr8:4480000-4481800	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:4480000-4494400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:4481400-4494400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:4481800-4484200	Enhancers	Fetal Muscle Leg	muscle
26	chr8:4483600-4484200	Enhancers	Fetal Heart	heart
27	chr8:4483800-4484200	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:4483800-4484400	Enhancers	Fetal Lung	lung
29	chr8:4485200-4485400	ZNF genes & repeats	Left Ventricle	heart
30	chr8:4488200-4488600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:4492200-4492600	Enhancers	Fetal Kidney	kidney
32	chr8:4494400-4494800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:4494400-4495000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr8:4494800-4497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:4495000-4497200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:4496000-4496400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:4496000-4496400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:4496000-4496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:4496200-4496400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:4496200-4496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:4496200-4496600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr8:4496600-4498000	Enhancers	Fetal Heart	heart
43	chr8:4496600-4501400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:4496800-4497200	Enhancers	Fetal Lung	lung
45	chr8:4497200-4497600	Weak transcription	Fetal Lung	lung
46	chr8:4497200-4498200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:4497600-4497800	Enhancers	Fetal Lung	lung
48	chr8:4497600-4498200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:4497800-4498600	Weak transcription	Fetal Lung	lung
50	chr8:4498200-4499600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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