Variant report

Variant	esv3353257
Chromosome Location	chr4:118839204-118841202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545169411	chr4:118839210-118839211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10001205	chr4:118839256-118839257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527338513	chr4:118839273-118839274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145420374	chr4:118839277-118839278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201932185	chr4:118839281-118839282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150352336	chr4:118839283-118839284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370363655	chr4:118839295-118839296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371076654	chr4:118839377-118839378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530017230	chr4:118839411-118839412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549790867	chr4:118839474-118839475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569744575	chr4:118839513-118839514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73841759	chr4:118839529-118839530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76822055	chr4:118839561-118839562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192311917	chr4:118839608-118839609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565847002	chr4:118839628-118839629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116481683	chr4:118839732-118839733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555168929	chr4:118839748-118839749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574902764	chr4:118839782-118839783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13435212	chr4:118839903-118839904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138664108	chr4:118839944-118839945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576144469	chr4:118839950-118839951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149328051	chr4:118839980-118839981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143430849	chr4:118840032-118840033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370915270	chr4:118840069-118840070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143537181	chr4:118840070-118840071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11267693	chr4:118840073-118840074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572127322	chr4:118840083-118840084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61082702	chr4:118840085-118840086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58085018	chr4:118840098-118840099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367784154	chr4:118840100-118840101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372236812	chr4:118840101-118840102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs59058012	chr4:118840111-118840112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57056651	chr4:118840126-118840127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57409246	chr4:118840127-118840128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540733743	chr4:118840139-118840140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199810952	chr4:118840140-118840141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6534064	chr4:118840141-118840142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs28726259	chr4:118840150-118840151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550097080	chr4:118840204-118840205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554912624	chr4:118840240-118840241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563233467	chr4:118840267-118840268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532234820	chr4:118840288-118840289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552157242	chr4:118840330-118840331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574970428	chr4:118840370-118840371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147176573	chr4:118840446-118840447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535137121	chr4:118840461-118840462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548380032	chr4:118840477-118840478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568667925	chr4:118840479-118840480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9799400	chr4:118840492-118840493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557546482	chr4:118840496-118840497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118837000-118839400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:118839200-118840200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:118839400-118842200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:118840200-118840400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:118840400-118841600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:118840800-118841200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:118840800-118841200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr4:118841000-118841400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:118841200-118841400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:118841200-118842200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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