Variant report

Variant	nsv889964
Chromosome Location	chr8:4501278-4514076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145223411..145224951-chr8:4505239..4506739,2	K562	blood:
2	chr8:4501243..4502892-chr8:4505644..4507988,2	K562	blood:
3	chr8:4501243..4502892-chr8:4505644..4507988,2	K562	blood:

Extended variants
information (count: 1108 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:1108 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7009980	chr8:4501278-4501279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144965916	chr8:4501299-4501300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183439282	chr8:4501303-4501304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376208254	chr8:4501322-4501323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116279227	chr8:4501327-4501328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528377271	chr8:4501347-4501348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547383292	chr8:4501350-4501351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186309046	chr8:4501353-4501354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533237144	chr8:4501363-4501364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551488190	chr8:4501368-4501369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570074997	chr8:4501403-4501404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112381241	chr8:4501405-4501406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368901494	chr8:4501419-4501420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113859623	chr8:4501424-4501425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191154197	chr8:4501432-4501433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567904003	chr8:4501469-4501470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182121869	chr8:4501493-4501494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548438014	chr8:4501494-4501495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186557462	chr8:4501495-4501496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373100149	chr8:4501502-4501503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552997635	chr8:4501505-4501506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577739474	chr8:4501517-4501518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538657456	chr8:4501518-4501519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78507621	chr8:4501532-4501533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556981818	chr8:4501552-4501553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7001148	chr8:4501563-4501564	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192558953	chr8:4501570-4501571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560970826	chr8:4501576-4501577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76908619	chr8:4501578-4501579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188670658	chr8:4501584-4501585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192884836	chr8:4501587-4501588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185023000	chr8:4501600-4501601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146797627	chr8:4501606-4501607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569648841	chr8:4501616-4501617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80036584	chr8:4501622-4501623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148952489	chr8:4501626-4501627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143735224	chr8:4501631-4501632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532257116	chr8:4501650-4501651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567806537	chr8:4501679-4501680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558597395	chr8:4501686-4501687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7014444	chr8:4501691-4501692	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189487469	chr8:4501711-4501712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538593862	chr8:4501747-4501748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2725005	chr8:4501774-4501775	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575290202	chr8:4501797-4501798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536008367	chr8:4501808-4501809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2169740	chr8:4501823-4501824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191685966	chr8:4501825-4501826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554884803	chr8:4501826-4501827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572735808	chr8:4501835-4501836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4496600-4501400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:4498200-4501400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:4498600-4501800	Enhancers	Fetal Lung	lung
4	chr8:4499600-4502000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:4500200-4501400	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:4501400-4501600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:4501400-4501800	Enhancers	Fetal Muscle Leg	muscle
8	chr8:4501400-4502200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:4501600-4502000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:4501800-4502000	Enhancers	Fetal Kidney	kidney
11	chr8:4501800-4503000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:4502000-4502400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:4502000-4503200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:4502400-4503200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:4502600-4502800	Enhancers	Fetal Kidney	kidney
16	chr8:4503000-4503200	Enhancers	Fetal Muscle Leg	muscle
17	chr8:4503200-4508800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:4508800-4510000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:4509600-4510600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:4510000-4510600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:4510000-4510600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:4510200-4510800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:4510600-4514400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:4511400-4511600	Enhancers	Adipose Nuclei	Adipose
25	chr8:4511600-4512000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr8:4512000-4512200	Enhancers	Adipose Nuclei	Adipose

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