Variant report

Variant	esv3353609
Chromosome Location	chr4:85392578-85394526
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	chr4:85392677..85394743-chr4:85399242..85401028,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534818492	chr4:85392582-85392583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548688497	chr4:85392614-85392615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553094038	chr4:85392630-85392631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574853479	chr4:85392631-85392632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189745697	chr4:85392698-85392699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542282037	chr4:85392745-85392746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557153710	chr4:85392769-85392770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575269668	chr4:85392779-85392780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545782939	chr4:85392824-85392825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150818398	chr4:85392863-85392864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564443684	chr4:85392901-85392902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183452628	chr4:85392907-85392908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187731636	chr4:85392924-85392925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562279373	chr4:85392935-85392936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529441651	chr4:85392957-85392958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12642612	chr4:85392995-85392996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147645810	chr4:85393004-85393005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13103204	chr4:85393043-85393044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28408619	chr4:85393055-85393056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75403610	chr4:85393059-85393060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28583265	chr4:85393062-85393063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13126985	chr4:85393092-85393093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73834303	chr4:85393099-85393100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534883598	chr4:85393105-85393106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13109095	chr4:85393122-85393123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370152513	chr4:85393141-85393142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73834304	chr4:85393177-85393178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568275073	chr4:85393190-85393191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112658569	chr4:85393233-85393234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111765051	chr4:85393255-85393256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557470694	chr4:85393283-85393284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575332195	chr4:85393301-85393302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6535537	chr4:85393303-85393304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371833819	chr4:85393306-85393307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374972786	chr4:85393360-85393361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561646787	chr4:85393372-85393373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557696054	chr4:85393420-85393421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs36085223	chr4:85393442-85393443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573222675	chr4:85393538-85393539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540947838	chr4:85393628-85393629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185346301	chr4:85393648-85393649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574213405	chr4:85393722-85393723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544473982	chr4:85393765-85393766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529574061	chr4:85393801-85393802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563372447	chr4:85393815-85393816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541770557	chr4:85393861-85393862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142800962	chr4:85393898-85393899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188612682	chr4:85394073-85394074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111672145	chr4:85394115-85394116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374298310	chr4:85394119-85394120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85388600-85392600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:85389400-85394800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:85392600-85394000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:85394000-85399000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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