Variant report

Variant	nsv609891
Chromosome Location	chr8:4690574-4700898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4695207..4695958-chr8:4732618..4733342,2	MCF-7	breast:
2	chr8:4695059..4696118-chr8:4854167..4855161,8	MCF-7	breast:
3	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:

Extended variants
information (count: 509 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6981348	chr8:4690574-4690575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145841319	chr8:4690586-4690587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542168064	chr8:4690590-4690591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560410499	chr8:4690637-4690638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149005941	chr8:4690640-4690641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76089236	chr8:4690659-4690660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570077896	chr8:4690661-4690662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374404853	chr8:4690668-4690669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549799465	chr8:4690676-4690677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568168571	chr8:4690678-4690679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535282289	chr8:4690713-4690714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535626411	chr8:4690717-4690718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118017509	chr8:4690719-4690720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73183404	chr8:4690724-4690725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534222204	chr8:4690738-4690739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559008975	chr8:4690758-4690759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577142247	chr8:4690850-4690851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142834404	chr8:4690852-4690853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151030898	chr8:4690864-4690865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574980269	chr8:4690871-4690872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142458293	chr8:4690882-4690883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570800479	chr8:4690884-4690885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558863522	chr8:4690902-4690903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116274116	chr8:4690903-4690904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115121946	chr8:4690904-4690905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146486835	chr8:4690906-4690907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577972951	chr8:4690965-4690966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186324955	chr8:4690991-4690992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370892563	chr8:4691020-4691021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189909878	chr8:4691021-4691022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534913401	chr8:4691027-4691028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561822260	chr8:4691030-4691031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34867087	chr8:4691043-4691044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529106929	chr8:4691045-4691046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547600788	chr8:4691061-4691062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182139863	chr8:4691062-4691063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539768009	chr8:4691072-4691073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138837934	chr8:4691108-4691109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570767829	chr8:4691154-4691155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141287474	chr8:4691157-4691158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150349883	chr8:4691168-4691169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556409673	chr8:4691184-4691185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116679651	chr8:4691188-4691189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537804963	chr8:4691222-4691223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184933921	chr8:4691239-4691240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572257476	chr8:4691246-4691247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540582310	chr8:4691260-4691261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546096253	chr8:4691265-4691266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138110133	chr8:4691273-4691274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575999022	chr8:4691286-4691287	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
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
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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4681200-4693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4693800-4694000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:4693800-4694600	Enhancers	Brain Germinal Matrix	brain
4	chr8:4693800-4695000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:4694000-4694600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:4694000-4694600	Enhancers	Fetal Brain Female	brain
7	chr8:4694200-4694600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:4694400-4694600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:4694600-4694800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:4694800-4695000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:4694800-4695600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:4695600-4695800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:4695600-4696000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:4696000-4696200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:4696200-4696400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr8:4696200-4696400	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links