Variant report

Variant	nsv609817
Chromosome Location	chr8:4052459-4134874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 2565 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:2565 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2552111	chr8:4052459-4052460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564687217	chr8:4052461-4052462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73658469	chr8:4052470-4052471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147022971	chr8:4052476-4052477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568648025	chr8:4052486-4052487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80349538	chr8:4052497-4052498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147550700	chr8:4052534-4052535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539559994	chr8:4052536-4052537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76865316	chr8:4052553-4052554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2656298	chr8:4052555-4052556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs537642533	chr8:4052587-4052588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556462300	chr8:4052589-4052590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71511195	chr8:4052591-4052592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2656299	chr8:4052593-4052594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182493771	chr8:4052596-4052597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572038999	chr8:4052601-4052602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545956694	chr8:4052606-4052607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs889991	chr8:4052615-4052616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531970617	chr8:4052616-4052617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185683277	chr8:4052620-4052621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73658470	chr8:4052630-4052631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190934189	chr8:4052639-4052640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547651233	chr8:4052671-4052672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565770467	chr8:4052699-4052700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566106208	chr8:4052703-4052704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182779009	chr8:4052715-4052716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540338576	chr8:4052719-4052720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114106727	chr8:4052742-4052743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553540997	chr8:4052743-4052744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188894445	chr8:4052747-4052748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114921546	chr8:4052750-4052751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117266811	chr8:4052782-4052783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373733824	chr8:4052783-4052784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367564997	chr8:4052813-4052814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542684095	chr8:4052814-4052815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554095070	chr8:4052817-4052818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374534591	chr8:4052823-4052824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148563752	chr8:4052824-4052825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377441420	chr8:4052826-4052827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193228517	chr8:4052829-4052830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372232076	chr8:4052838-4052839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143059667	chr8:4052843-4052844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375210650	chr8:4052844-4052845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115919268	chr8:4052851-4052852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543474242	chr8:4052856-4052857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562159147	chr8:4052858-4052859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs889992	chr8:4052860-4052861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183516605	chr8:4052871-4052872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs889993	chr8:4052872-4052873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536367801	chr8:4052874-4052875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4049800-4054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:4050600-4053800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:4051000-4052800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:4051400-4053200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:4053200-4053400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:4053400-4054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:4054000-4054400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:4058200-4058400	Enhancers	Fetal Lung	lung
9	chr8:4058200-4058800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:4059800-4060600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:4060400-4061000	Enhancers	Fetal Lung	lung
12	chr8:4066800-4067200	Active TSS	Fetal Muscle Trunk	muscle
13	chr8:4069200-4069600	Enhancers	Fetal Lung	lung
14	chr8:4069600-4070800	Weak transcription	Fetal Lung	lung
15	chr8:4070400-4071800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:4070400-4074600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:4070600-4070800	Enhancers	Fetal Muscle Leg	muscle
18	chr8:4070600-4071600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:4070600-4071600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:4070600-4074600	Enhancers	Fetal Brain Male	brain
21	chr8:4070800-4071400	Enhancers	Fetal Lung	lung
22	chr8:4070800-4072600	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:4071000-4071400	Enhancers	Fetal Brain Female	brain
24	chr8:4071400-4071600	Enhancers	Brain Substantia Nigra	brain
25	chr8:4071400-4072600	Weak transcription	Fetal Brain Female	brain
26	chr8:4071600-4072600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:4071600-4073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:4071800-4072200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:4072200-4072800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:4072200-4074400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:4072400-4072600	Enhancers	Brain Substantia Nigra	brain
32	chr8:4072600-4072800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:4072600-4073600	Enhancers	Brain Germinal Matrix	brain
34	chr8:4072600-4074200	Enhancers	Fetal Muscle Leg	muscle
35	chr8:4072600-4074400	Enhancers	Fetal Brain Female	brain
36	chr8:4072800-4073200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:4073200-4074000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:4073200-4074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:4073400-4074400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:4074600-4078200	Weak transcription	Fetal Brain Male	brain
41	chr8:4078200-4078600	Enhancers	Fetal Brain Male	brain
42	chr8:4089800-4092800	Enhancers	Dnd41	blood
43	chr8:4092000-4092600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:4092000-4092600	Enhancers	Fetal Heart	heart
45	chr8:4092200-4092800	Enhancers	Fetal Muscle Leg	muscle
46	chr8:4092800-4093400	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:4093400-4093600	Enhancers	Fetal Muscle Leg	muscle
48	chr8:4100400-4102000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr8:4100600-4101800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:4100800-4101400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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