Variant report

Variant	nsv1033942
Chromosome Location	chr8:4289483-4350738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:
2	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
3	chr8:4330073..4332669-chr8:4334409..4336007,2	K562	blood:
4	chr8:4330073..4332669-chr8:4334409..4336694,3	K562	blood:

Extended variants
information (count: 2107 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2107 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139518909	chr8:4290015-4290016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565845729	chr8:4290041-4290042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150025885	chr8:4290045-4290046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551450002	chr8:4290047-4290048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376605747	chr8:4290056-4290057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548453371	chr8:4290076-4290077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536606724	chr8:4290082-4290083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369608017	chr8:4290099-4290100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554468693	chr8:4290114-4290115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188872369	chr8:4290147-4290148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192947127	chr8:4290161-4290162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535302144	chr8:4290179-4290180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553325901	chr8:4290183-4290184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146619255	chr8:4290186-4290187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545217171	chr8:4290187-4290188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373512913	chr8:4290210-4290211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185156414	chr8:4290211-4290212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574348302	chr8:4290225-4290226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575720569	chr8:4290271-4290272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7007659	chr8:4290275-4290276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189934862	chr8:4290277-4290278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191879886	chr8:4290284-4290285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563025642	chr8:4290299-4290300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11781724	chr8:4290305-4290306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559327817	chr8:4290353-4290354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111684074	chr8:4290354-4290355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370889060	chr8:4290363-4290364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78646962	chr8:4290368-4290369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184162977	chr8:4290385-4290386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2915065	chr8:4290386-4290387	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532921682	chr8:4290401-4290402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548594276	chr8:4290407-4290408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188315139	chr8:4290410-4290411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546252376	chr8:4290414-4290415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73512778	chr8:4290436-4290437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144614084	chr8:4290441-4290442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539181863	chr8:4290454-4290455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115286607	chr8:4290457-4290458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560033908	chr8:4290465-4290466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141425180	chr8:4290468-4290469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555036632	chr8:4290474-4290475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573267520	chr8:4290475-4290476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541015802	chr8:4290487-4290488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559554958	chr8:4290490-4290491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375745728	chr8:4290497-4290498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180675892	chr8:4290499-4290500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35264547	chr8:4290504-4290505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545158217	chr8:4290528-4290529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529114435	chr8:4290535-4290536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563118104	chr8:4290536-4290537	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
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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4290000-4291000	Enhancers	Fetal Muscle Leg	muscle
2	chr8:4291000-4291800	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:4292200-4292400	Enhancers	Fetal Muscle Leg	muscle
4	chr8:4293000-4293400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:4295200-4296000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:4295400-4296000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:4300000-4300400	Enhancers	Fetal Brain Male	brain
8	chr8:4300400-4301400	Weak transcription	Fetal Brain Male	brain
9	chr8:4301400-4301600	Enhancers	Fetal Brain Male	brain
10	chr8:4303200-4303600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:4307000-4307600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:4307200-4307600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:4309200-4310400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:4310400-4312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:4310800-4311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:4312400-4313000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:4315400-4316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:4316400-4317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:4318400-4319000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:4324400-4325000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:4325600-4325800	Enhancers	Gastric	stomach
22	chr8:4325800-4329000	Weak transcription	Gastric	stomach
23	chr8:4328200-4330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:4329000-4329400	ZNF genes & repeats	Gastric	stomach
25	chr8:4330800-4331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:4334400-4335000	Enhancers	Fetal Muscle Trunk	muscle
27	chr8:4335200-4335800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:4335400-4335800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:4338400-4339000	Enhancers	Fetal Heart	heart
30	chr8:4347000-4347400	Enhancers	Gastric	stomach

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