Variant report

Variant	nsv1028542
Chromosome Location	chr8:4758159-4824005
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	chr8:4805755..4808307-chr8:4809361..4811905,2	K562	blood:
2	chr8:4805755..4808307-chr8:4809361..4811905,2	K562	blood:

Extended variants
information (count: 2463 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2463 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573014580	chr8:4761802-4761803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574160832	chr8:4761821-4761822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541561248	chr8:4761824-4761825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553371087	chr8:4761837-4761838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578078617	chr8:4761838-4761839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377378279	chr8:4761857-4761858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142276686	chr8:4761877-4761878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73505881	chr8:4761881-4761882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543188647	chr8:4761887-4761888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146258002	chr8:4761891-4761892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138640032	chr8:4761913-4761914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546304350	chr8:4761935-4761936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78414792	chr8:4761936-4761937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114925198	chr8:4761939-4761940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555038719	chr8:4761946-4761947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528750060	chr8:4761950-4761951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550351045	chr8:4761951-4761952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575325497	chr8:4761955-4761956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183428908	chr8:4761963-4761964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566763319	chr8:4761989-4761990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536183520	chr8:4761992-4761993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548378945	chr8:4762000-4762001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566688954	chr8:4762013-4762014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529329262	chr8:4762015-4762016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544256004	chr8:4762026-4762027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112479011	chr8:4762028-4762029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148833449	chr8:4762033-4762034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533106100	chr8:4762035-4762036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186358870	chr8:4762075-4762076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578073247	chr8:4762087-4762088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539016212	chr8:4762113-4762114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11996241	chr8:4762118-4762119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575869873	chr8:4762125-4762126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79831038	chr8:4762129-4762130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117094881	chr8:4762135-4762136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573109609	chr8:4762139-4762140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539892595	chr8:4762196-4762197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564635044	chr8:4762201-4762202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191310409	chr8:4762206-4762207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74608030	chr8:4762215-4762216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114415586	chr8:4762216-4762217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529967594	chr8:4762237-4762238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548514687	chr8:4762253-4762254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566624994	chr8:4762261-4762262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533975695	chr8:4762276-4762277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549672874	chr8:4762287-4762288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35005911	chr8:4762301-4762302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571695641	chr8:4762302-4762303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531576056	chr8:4762312-4762313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200283892	chr8:4762319-4762320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4761800-4762200	Enhancers	Fetal Intestine Large	intestine
2	chr8:4761800-4762600	Enhancers	Fetal Intestine Small	intestine
3	chr8:4762200-4763200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:4763400-4763600	Enhancers	Fetal Intestine Large	intestine
5	chr8:4766400-4778400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:4769600-4777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:4773000-4773600	Enhancers	Fetal Brain Male	brain
8	chr8:4777200-4777600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr8:4777600-4778000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:4783400-4783800	Enhancers	Liver	Liver
11	chr8:4783800-4784400	Flanking Active TSS	Liver	Liver
12	chr8:4783800-4785200	Enhancers	HepG2	liver
13	chr8:4784400-4784600	Active TSS	Liver	Liver
14	chr8:4784600-4785000	Flanking Active TSS	Liver	Liver
15	chr8:4784800-4785400	Enhancers	Fetal Intestine Small	intestine
16	chr8:4785000-4785800	Enhancers	Liver	Liver
17	chr8:4795000-4795400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:4806600-4807400	Enhancers	Adipose Nuclei	Adipose
19	chr8:4807400-4811200	Weak transcription	Adipose Nuclei	Adipose
20	chr8:4810400-4811200	Enhancers	Liver	Liver
21	chr8:4811200-4811400	Flanking Active TSS	Liver	Liver
22	chr8:4811200-4811600	Enhancers	Fetal Intestine Large	intestine
23	chr8:4811200-4811600	Enhancers	Fetal Intestine Small	intestine
24	chr8:4811200-4813000	Enhancers	Adipose Nuclei	Adipose
25	chr8:4811400-4811600	Enhancers	Liver	Liver
26	chr8:4811400-4811800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:4811600-4811800	Flanking Active TSS	Liver	Liver
28	chr8:4811800-4813600	Enhancers	Liver	Liver
29	chr8:4815200-4815800	Enhancers	Fetal Brain Male	brain
30	chr8:4815800-4818000	Weak transcription	Fetal Brain Male	brain
31	chr8:4816600-4817000	Enhancers	Fetal Heart	heart
32	chr8:4816800-4817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:4816800-4817200	Enhancers	Esophagus	oesophagus
34	chr8:4817000-4817200	Flanking Active TSS	Fetal Heart	heart
35	chr8:4817200-4817800	Enhancers	Fetal Heart	heart
36	chr8:4818000-4818200	Enhancers	Fetal Brain Male	brain
37	chr8:4818200-4818800	Weak transcription	Fetal Brain Male	brain
38	chr8:4818800-4819000	Enhancers	Fetal Brain Male	brain
39	chr8:4822000-4822400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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