Variant report

Variant	esv3358976
Chromosome Location	chr4:10380354-10382402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10374180..10377123-chr4:10380489..10383795,3	K562	blood:
2	chr4:10368780..10371075-chr4:10378695..10380691,2	K562	blood:
3	chr4:10380945..10383777-chr4:10383962..10385513,2	K562	blood:

Extended variants
information (count: 190 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532532443	chr4:10380374-10380375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62288471	chr4:10380395-10380396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs565781796	chr4:10380415-10380416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529967355	chr4:10380418-10380419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548520665	chr4:10380441-10380442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569642830	chr4:10380448-10380449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537022627	chr4:10380509-10380510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533725173	chr4:10380546-10380547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370063608	chr4:10380565-10380566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6447931	chr4:10380611-10380612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534468205	chr4:10380652-10380653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184821037	chr4:10380675-10380676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74781638	chr4:10380787-10380788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6447932	chr4:10380848-10380849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554862619	chr4:10380857-10380858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149027841	chr4:10380880-10380881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543395549	chr4:10380887-10380888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565174195	chr4:10380895-10380896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577264756	chr4:10380905-10380906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541168803	chr4:10380918-10380919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189288226	chr4:10380923-10380924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529937258	chr4:10380937-10380938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192760085	chr4:10380953-10380954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28462089	chr4:10380982-10380983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs36043048	chr4:10380988-10380989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10548757	chr4:10380989-10380990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7688652	chr4:10381003-10381004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199961255	chr4:10381004-10381005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56376111	chr4:10381005-10381006	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs56189876	chr4:10381011-10381012	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs567778334	chr4:10381013-10381014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55827106	chr4:10381019-10381020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530869402	chr4:10381022-10381023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55684507	chr4:10381029-10381030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200021372	chr4:10381030-10381031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55838855	chr4:10381031-10381032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552149770	chr4:10381036-10381037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55885111	chr4:10381037-10381038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201722523	chr4:10381039-10381040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56164972	chr4:10381043-10381044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56387382	chr4:10381049-10381050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570357854	chr4:10381051-10381052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533852972	chr4:10381052-10381053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56190526	chr4:10381053-10381054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56210418	chr4:10381063-10381064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56314839	chr4:10381065-10381066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538000280	chr4:10381066-10381067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146705715	chr4:10381072-10381073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199729398	chr4:10381077-10381078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201012118	chr4:10381095-10381096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10374200-10386600	Weak transcription	K562	blood
2	chr4:10376200-10382200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:10382000-10382400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:10382000-10383400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:10382000-10383600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:10382200-10382400	Enhancers	Thymus	Thymus
7	chr4:10382200-10383400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:10382200-10383400	Enhancers	NHEK	skin
9	chr4:10382200-10383600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:10382200-10383600	Enhancers	HMEC	breast
11	chr4:10382400-10384400	Weak transcription	Thymus	Thymus

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