Variant report

Variant	nsv523605
Chromosome Location	chr8:4041356-4108050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:
2	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:
3	chr8:4092133..4092721-chr8:4257157..4257997,2	MCF-7	breast:

Extended variants
information (count: 2408 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:2408 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577656962	chr8:4049000-4049001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189398854	chr8:4049005-4049006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17069297	chr8:4049011-4049012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs368353168	chr8:4049014-4049015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547254964	chr8:4049029-4049030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139403094	chr8:4049035-4049036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372342333	chr8:4049040-4049041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542929871	chr8:4049042-4049043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561223680	chr8:4049043-4049044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181685686	chr8:4049045-4049046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4415339	chr8:4049047-4049048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571574038	chr8:4049063-4049064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567885167	chr8:4049069-4049070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185051604	chr8:4049070-4049071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548234915	chr8:4049075-4049076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76261656	chr8:4049086-4049087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537230057	chr8:4049099-4049100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150072754	chr8:4049100-4049101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145194427	chr8:4049102-4049103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534656369	chr8:4049109-4049110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189899000	chr8:4049123-4049124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542728564	chr8:4049137-4049138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181117487	chr8:4049146-4049147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186085108	chr8:4049150-4049151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575459699	chr8:4049167-4049168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542809245	chr8:4049177-4049178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555863905	chr8:4049210-4049211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561664970	chr8:4049233-4049234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149140024	chr8:4049239-4049240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376210491	chr8:4049266-4049267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566890820	chr8:4049267-4049268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527756387	chr8:4049284-4049285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189908231	chr8:4049292-4049293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180817103	chr8:4049300-4049301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17069302	chr8:4049307-4049308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186412770	chr8:4049321-4049322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562951347	chr8:4049343-4049344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530775644	chr8:4049353-4049354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17069304	chr8:4049355-4049356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567416000	chr8:4049364-4049365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553722913	chr8:4049368-4049369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143648075	chr8:4049370-4049371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561340410	chr8:4049371-4049372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs779130	chr8:4049374-4049375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs571170837	chr8:4049382-4049383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57369637	chr8:4049384-4049385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs710261	chr8:4049410-4049411	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs17069305	chr8:4049433-4049434	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554865673	chr8:4049436-4049437	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573356551	chr8:4049443-4049444	Enhancers Flanking Active TSS	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
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4049000-4049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:4049000-4049800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:4049200-4049400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:4049200-4049800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:4049200-4050200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:4049200-4050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:4049200-4050400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:4049400-4049600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:4049400-4049600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:4049400-4049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:4049400-4049800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:4049400-4049800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:4049400-4050000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:4049400-4050600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:4049400-4051200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:4049600-4049800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:4049800-4050000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:4049800-4050400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:4049800-4051000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:4049800-4054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:4050000-4050600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:4050400-4051800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:4050600-4051000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:4050600-4053800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:4051000-4051200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:4051000-4052800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:4051200-4052000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:4051400-4053200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:4051800-4052000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:4052000-4052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:4053200-4053400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:4053400-4054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:4054000-4054400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:4058200-4058400	Enhancers	Fetal Lung	lung
35	chr8:4058200-4058800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:4059800-4060600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr8:4060400-4061000	Enhancers	Fetal Lung	lung
38	chr8:4066800-4067200	Active TSS	Fetal Muscle Trunk	muscle
39	chr8:4069200-4069600	Enhancers	Fetal Lung	lung
40	chr8:4069600-4070800	Weak transcription	Fetal Lung	lung
41	chr8:4070400-4071800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:4070400-4074600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:4070600-4070800	Enhancers	Fetal Muscle Leg	muscle
44	chr8:4070600-4071600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:4070600-4071600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:4070600-4074600	Enhancers	Fetal Brain Male	brain
47	chr8:4070800-4071400	Enhancers	Fetal Lung	lung
48	chr8:4070800-4072600	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:4071000-4071400	Enhancers	Fetal Brain Female	brain
50	chr8:4071400-4071600	Enhancers	Brain Substantia Nigra	brain

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