Variant report

Variant	esv3356794
Chromosome Location	chr8:1640695-1642043
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	chr8:1639712..1642185-chr8:1645555..1647369,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532748854	chr8:1640695-1640696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553703222	chr8:1640702-1640703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546154199	chr8:1640708-1640709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575157979	chr8:1640709-1640710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559837168	chr8:1640713-1640714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528909554	chr8:1640733-1640734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6558511	chr8:1640790-1640791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186913308	chr8:1640793-1640794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537799628	chr8:1640821-1640822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2472117	chr8:1640832-1640833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113521150	chr8:1640856-1640857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551634029	chr8:1640892-1640893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570893923	chr8:1640910-1640911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539860605	chr8:1640974-1640975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192021621	chr8:1640987-1640988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78380211	chr8:1640997-1640998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563855805	chr8:1641003-1641004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566977118	chr8:1641005-1641006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552417659	chr8:1641062-1641063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201390832	chr8:1641085-1641086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116982099	chr8:1641167-1641168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576857768	chr8:1641213-1641214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565837114	chr8:1641239-1641240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575769453	chr8:1641250-1641251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202033333	chr8:1641312-1641313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200224725	chr8:1641318-1641319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201759715	chr8:1641319-1641320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199676366	chr8:1641321-1641322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs66463472	chr8:1641322-1641323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57554933	chr8:1641323-1641324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183945276	chr8:1641340-1641341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34364599	chr8:1641341-1641342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577887966	chr8:1641347-1641348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138872959	chr8:1641460-1641461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185985362	chr8:1641502-1641503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191179531	chr8:1641527-1641528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149409409	chr8:1641528-1641529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562571775	chr8:1641541-1641542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531518892	chr8:1641549-1641550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182185064	chr8:1641550-1641551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571589448	chr8:1641551-1641552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556186158	chr8:1641570-1641571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576253453	chr8:1641601-1641602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187101250	chr8:1641608-1641609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547054930	chr8:1641635-1641636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545104078	chr8:1641690-1641691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75444413	chr8:1641699-1641700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191616056	chr8:1641711-1641712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144799672	chr8:1641712-1641713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76454787	chr8:1641713-1641714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	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
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1620000-1643800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1621400-1646200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:1638000-1643800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:1640200-1649000	Weak transcription	Pancreas	Pancrea
5	chr8:1641800-1644800	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links