Variant report

Variant	esv3436199
Chromosome Location	chr4:20308404-20309402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536036790	chr4:20308453-20308454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554372177	chr4:20308467-20308468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58086451	chr4:20308476-20308477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368145693	chr4:20308546-20308547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568891136	chr4:20308548-20308549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150396210	chr4:20308580-20308581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377722486	chr4:20308662-20308663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141169053	chr4:20308668-20308669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558480653	chr4:20308706-20308707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576773084	chr4:20308713-20308714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61792585	chr4:20308779-20308780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560265442	chr4:20308783-20308784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184525596	chr4:20308787-20308788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143907970	chr4:20308818-20308819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13147242	chr4:20308822-20308823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368523918	chr4:20308842-20308843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536411132	chr4:20308854-20308855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371278108	chr4:20308855-20308856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71181557	chr4:20308904-20308905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367893828	chr4:20308930-20308931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187373372	chr4:20308934-20308935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542424127	chr4:20308947-20308948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527616327	chr4:20308955-20308956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560537856	chr4:20308956-20308957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34779129	chr4:20309027-20309028	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146650438	chr4:20309043-20309044	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564466996	chr4:20309045-20309046	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191825237	chr4:20309052-20309053	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139206056	chr4:20309071-20309072	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552431745	chr4:20309137-20309138	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563966401	chr4:20309145-20309146	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568790491	chr4:20309170-20309171	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529972102	chr4:20309182-20309183	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558381854	chr4:20309202-20309203	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566550492	chr4:20309216-20309217	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113200788	chr4:20309228-20309229	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Colorectal cancer	16774939	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20291800-20319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:20299400-20319000	Weak transcription	NHLF	lung
3	chr4:20301200-20309000	Weak transcription	Fetal Lung	lung
4	chr4:20301400-20316800	Weak transcription	NHDF-Ad	bronchial
5	chr4:20306200-20325600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:20306800-20309000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:20309000-20309600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:20309000-20310000	Strong transcription	Fetal Lung	lung

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