Variant report

Variant	nsv1028198
Chromosome Location	chr8:3865444-3879543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:

Extended variants
information (count: 371 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180744132	chr8:3876005-3876006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs144206550	chr8:3876014-3876015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560681257	chr8:3876107-3876108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551311702	chr8:3876109-3876110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs151047259	chr8:3876112-3876113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs185140487	chr8:3876118-3876119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191915865	chr8:3876121-3876122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569718014	chr8:3876128-3876129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374353442	chr8:3876151-3876152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2554594	chr8:3876154-3876155	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553936764	chr8:3876160-3876161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532649722	chr8:3876174-3876175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551304863	chr8:3876184-3876185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569266556	chr8:3876194-3876195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536678315	chr8:3876197-3876198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373956071	chr8:3876198-3876199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs75099639	chr8:3876214-3876215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371793091	chr8:3876217-3876218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116329330	chr8:3876225-3876226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58038475	chr8:3876231-3876232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114029852	chr8:3876233-3876234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538550605	chr8:3876247-3876248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184172059	chr8:3876250-3876251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57596313	chr8:3876256-3876257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139772331	chr8:3876259-3876260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554161453	chr8:3876260-3876261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2688372	chr8:3876262-3876263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4875262	chr8:3876265-3876266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540326400	chr8:3876266-3876267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2554593	chr8:3876268-3876269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532782874	chr8:3876270-3876271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188376424	chr8:3876281-3876282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376470526	chr8:3876295-3876296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545705795	chr8:3876304-3876305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369988843	chr8:3876306-3876307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563201356	chr8:3876315-3876316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2740937	chr8:3876317-3876318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs77870422	chr8:3876322-3876323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566881192	chr8:3876331-3876332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114203711	chr8:3876336-3876337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552683268	chr8:3876338-3876339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117250587	chr8:3876341-3876342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192056677	chr8:3876343-3876344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149806071	chr8:3876345-3876346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568778395	chr8:3876353-3876354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572698837	chr8:3876354-3876355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183073724	chr8:3876361-3876362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554098117	chr8:3876362-3876363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572843158	chr8:3876363-3876364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145557444	chr8:3876380-3876381	Weak transcription	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3876000-3876200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:3876200-3879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:3876400-3879200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links