Variant report

Variant	esv1791864
Chromosome Location	chr4:8622594-8640459
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	chr4:8472717..8474725-chr4:8621251..8624026,2	K562	blood:
2	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62288595	chr4:8622617-8622618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150386213	chr4:8622632-8622633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367969620	chr4:8622636-8622637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142696044	chr4:8622700-8622701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372566073	chr4:8622759-8622760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200815487	chr4:8622842-8622843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535569040	chr4:8622907-8622908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554849971	chr4:8622926-8622927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576305484	chr4:8622946-8622947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550385787	chr4:8622971-8622972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4696705	chr4:8622979-8622980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543601375	chr4:8622982-8622983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140525766	chr4:8622990-8622991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577179173	chr4:8622993-8622994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184773007	chr4:8623003-8623004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559068776	chr4:8623023-8623024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529835479	chr4:8623056-8623057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200136898	chr4:8623106-8623107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541566705	chr4:8623110-8623111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368904398	chr4:8623126-8623127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116834080	chr4:8623160-8623161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531027229	chr4:8623166-8623167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188752945	chr4:8623167-8623168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564468337	chr4:8623233-8623234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199942359	chr4:8623292-8623293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368813958	chr4:8623313-8623314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200973094	chr4:8623601-8623602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143192781	chr4:8623620-8623621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62288596	chr4:8623643-8623644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202070770	chr4:8623799-8623800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180829658	chr4:8639415-8639416	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75938836	chr4:8639416-8639417	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147426946	chr4:8639418-8639419	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544033207	chr4:8639560-8639561	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181837497	chr4:8639562-8639563	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533121368	chr4:8639575-8639576	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551654848	chr4:8639594-8639595	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560146728	chr4:8639611-8639612	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs77815055	chr4:8639643-8639644	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs548978510	chr4:8639694-8639695	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs567404123	chr4:8639701-8639702	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs537931080	chr4:8639709-8639710	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs550446710	chr4:8639723-8639724	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs571875862	chr4:8639750-8639751	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs538817906	chr4:8639763-8639764	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8596000-8622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:8596000-8623200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:8611800-8622800	Weak transcription	Spleen	Spleen
4	chr4:8613000-8623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:8613800-8623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:8616200-8623200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:8616600-8623000	Weak transcription	Osteobl	bone
8	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
9	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
17	chr4:8622000-8623800	Weak transcription	Ovary	ovary
18	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:8639400-8639600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:8639400-8639600	Enhancers	Ovary	ovary
21	chr4:8639600-8639800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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