Variant report

Variant	nsv889997
Chromosome Location	chr8:5534849-5553031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:5543604..5544126-chr8:5997197..5997756,2	MCF-7	breast:
2	chr8:5539160..5541154-chr8:5572222..5575011,2	K562	blood:
3	chr8:5535511..5537996-chr8:5538816..5540687,2	K562	blood:
4	chr8:5535511..5537996-chr8:5538816..5540687,2	K562	blood:

Extended variants
information (count: 420 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2527161	chr8:5534849-5534850	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78728954	chr8:5534851-5534852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536204074	chr8:5534885-5534886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554543876	chr8:5534930-5534931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566571034	chr8:5534953-5534954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192980440	chr8:5534962-5534963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558845300	chr8:5534966-5534967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576936403	chr8:5534976-5534977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182991249	chr8:5534980-5534981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12056933	chr8:5534987-5534988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558229993	chr8:5534992-5534993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541993216	chr8:5535012-5535013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1013867	chr8:5535027-5535028	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534869124	chr8:5535033-5535034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17074532	chr8:5535039-5535040	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149621414	chr8:5535045-5535046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187666541	chr8:5535055-5535056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2725669	chr8:5535056-5535057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2725670	chr8:5535064-5535065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147294227	chr8:5535069-5535070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140882041	chr8:5535074-5535075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7825852	chr8:5535078-5535079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144946892	chr8:5535108-5535109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558539380	chr8:5535135-5535136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570736075	chr8:5535138-5535139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10112126	chr8:5535139-5535140	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556389784	chr8:5535165-5535166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192349868	chr8:5535181-5535182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7464746	chr8:5535185-5535186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553938375	chr8:5535203-5535204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116823825	chr8:5535204-5535205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1013866	chr8:5535206-5535207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs375169801	chr8:5535224-5535225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184944080	chr8:5535225-5535226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147524146	chr8:5535241-5535242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61686001	chr8:5535247-5535248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117364441	chr8:5535252-5535253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562731349	chr8:5535263-5535264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561251876	chr8:5535269-5535270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529979075	chr8:5535292-5535293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17074538	chr8:5535299-5535300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188159554	chr8:5535303-5535304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1013865	chr8:5535304-5535305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531973530	chr8:5535310-5535311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368401377	chr8:5535316-5535317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557950102	chr8:5535326-5535327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148510157	chr8:5535367-5535368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs59874208	chr8:5535375-5535376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs118041318	chr8:5535376-5535377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550134338	chr8:5535417-5535418	Weak transcription Enhancers	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
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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5528200-5539200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:5531200-5535000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:5532000-5535200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:5532000-5535400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:5532400-5535400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:5533200-5535000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:5533400-5538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:5533800-5535000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:5534200-5535600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:5534800-5535600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:5534800-5537200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:5535000-5536200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:5535200-5536200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:5535400-5536400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:5535400-5536400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:5535600-5536000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:5535600-5536000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:5536000-5536600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:5536000-5536800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:5536200-5537000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:5536400-5536600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:5536400-5536600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:5536400-5536800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:5536400-5537000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:5537200-5539400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:5539400-5539800	Enhancers	Fetal Stomach	stomach

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