Variant report

Variant	esv1836113
Chromosome Location	chr4:20920974-20934080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 417 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13129855	chr4:20920974-20920975	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10653275	chr4:20921030-20921031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386399459	chr4:20921031-20921032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386399460	chr4:20921039-20921040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531705578	chr4:20921040-20921041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576868167	chr4:20921041-20921042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574436668	chr4:20921043-20921044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35588698	chr4:20921051-20921052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151072152	chr4:20921055-20921056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564595451	chr4:20921069-20921070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531981512	chr4:20921073-20921074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112463293	chr4:20921083-20921084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6836783	chr4:20921084-20921085	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552094765	chr4:20921092-20921093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552428150	chr4:20921114-20921115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565947182	chr4:20921179-20921180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530312491	chr4:20921180-20921181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548791317	chr4:20921186-20921187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192815942	chr4:20921187-20921188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183766498	chr4:20921233-20921234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552707387	chr4:20921234-20921235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570932688	chr4:20921242-20921243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538256310	chr4:20921249-20921250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188647246	chr4:20921250-20921251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536151420	chr4:20921257-20921258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548137888	chr4:20921275-20921276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367899253	chr4:20921279-20921280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369329781	chr4:20921321-20921322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573617142	chr4:20921326-20921327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373872467	chr4:20921377-20921378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192476320	chr4:20921378-20921379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566683962	chr4:20921383-20921384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567975915	chr4:20921459-20921460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367643589	chr4:20921488-20921489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149817209	chr4:20921497-20921498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564660168	chr4:20921501-20921502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76393123	chr4:20921509-20921510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375885126	chr4:20921537-20921538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544228294	chr4:20921542-20921543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185028219	chr4:20921551-20921552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556637274	chr4:20921637-20921638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562322637	chr4:20921641-20921642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530466210	chr4:20921673-20921674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548612412	chr4:20921733-20921734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140694683	chr4:20921774-20921775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570243573	chr4:20921793-20921794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539631364	chr4:20921803-20921804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553167939	chr4:20921832-20921833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552772704	chr4:20921842-20921843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188277774	chr4:20921852-20921853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20916600-20927800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20920200-20921200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:20921200-20927200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:20926400-20927200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:20926600-20927000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:20926800-20928000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:20927200-20928000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:20927800-20928400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:20928000-20930200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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