Variant report

Variant	esv3382422
Chromosome Location	chr4:18905732-18933315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 251 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34919509	chr4:18909008-18909009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533092199	chr4:18909015-18909016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551371560	chr4:18909029-18909030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200694740	chr4:18909030-18909031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531535610	chr4:18909031-18909032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34295055	chr4:18909184-18909185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546003670	chr4:18913808-18913809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564300882	chr4:18913818-18913819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140058441	chr4:18913831-18913832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534896572	chr4:18913838-18913839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370626706	chr4:18913845-18913846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547079839	chr4:18913872-18913873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562218962	chr4:18913909-18913910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529224637	chr4:18913912-18913913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547405797	chr4:18913934-18913935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559582134	chr4:18913956-18913957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150276637	chr4:18913957-18913958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77760524	chr4:18914038-18914039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570195936	chr4:18914068-18914069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537663393	chr4:18914099-18914100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181416313	chr4:18914109-18914110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568171512	chr4:18914117-18914118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185699412	chr4:18914121-18914122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370113727	chr4:18914176-18914177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553838184	chr4:18914268-18914269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189866570	chr4:18914314-18914315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112079864	chr4:18914347-18914348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558921615	chr4:18914351-18914352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539790697	chr4:18914356-18914357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78607119	chr4:18914444-18914445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576115940	chr4:18914463-18914464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368014232	chr4:18914467-18914468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182129544	chr4:18914481-18914482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541151201	chr4:18914507-18914508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555549809	chr4:18914525-18914526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141786627	chr4:18914533-18914534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373965094	chr4:18914538-18914539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116984416	chr4:18914598-18914599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368112643	chr4:18914607-18914608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559370160	chr4:18914612-18914613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533438809	chr4:18914647-18914648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370895137	chr4:18914655-18914656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545258877	chr4:18914701-18914702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564012292	chr4:18914743-18914744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147085359	chr4:18914786-18914787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71653805	chr4:18914828-18914829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13129810	chr4:18914830-18914831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568048487	chr4:18914846-18914847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115592027	chr4:18914847-18914848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530042891	chr4:18914873-18914874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18909000-18909200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:18913800-18915200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:18914800-18916800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:18914800-18916800	Enhancers	NHEK	skin
5	chr4:18915000-18916600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:18915200-18916000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:18915200-18916800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:18915200-18916800	Enhancers	HMEC	breast
9	chr4:18925200-18926800	Enhancers	Fetal Heart	heart
10	chr4:18925400-18925800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:18932000-18932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:18932400-18937400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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