Variant report

Variant	esv12254
Chromosome Location	chr4:10726064-10726780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7678879	chr4:10726074-10726075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560491692	chr4:10726077-10726078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556557833	chr4:10726106-10726107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10640484	chr4:10726107-10726108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397952783	chr4:10726117-10726118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199834207	chr4:10726118-10726119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs118100737	chr4:10726119-10726120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57512271	chr4:10726124-10726125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7683890	chr4:10726125-10726126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs76575035	chr4:10726139-10726140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140475674	chr4:10726158-10726159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571312339	chr4:10726161-10726162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28522128	chr4:10726199-10726200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553754636	chr4:10726208-10726209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368838170	chr4:10726213-10726214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7679089	chr4:10726218-10726219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554122504	chr4:10726224-10726225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138020397	chr4:10726226-10726227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7655068	chr4:10726231-10726232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550800649	chr4:10726235-10726236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556727808	chr4:10726257-10726258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7679275	chr4:10726286-10726287	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9685615	chr4:10726312-10726313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373235998	chr4:10726315-10726316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545708071	chr4:10726320-10726321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560735480	chr4:10726321-10726322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141052985	chr4:10726363-10726364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543074551	chr4:10726402-10726403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569892528	chr4:10726404-10726405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561254783	chr4:10726423-10726424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144864689	chr4:10726454-10726455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549958506	chr4:10726455-10726456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539695286	chr4:10726469-10726470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13135671	chr4:10726474-10726475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76295347	chr4:10726503-10726504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13103285	chr4:10726520-10726521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs71636002	chr4:10726609-10726610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11939216	chr4:10726610-10726611	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs569270349	chr4:10726681-10726682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553993896	chr4:10726706-10726707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11940117	chr4:10726707-10726708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs80084149	chr4:10726708-10726709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138773863	chr4:10726711-10726712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187854527	chr4:10726724-10726725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372590539	chr4:10726745-10726746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545309232	chr4:10726753-10726754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374515158	chr4:10726761-10726762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9993142	chr4:10726769-10726770	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10719000-10726200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:10724200-10728400	Weak transcription	Primary T cells from cord blood	blood
3	chr4:10725200-10733000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:10725400-10726200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:10725400-10728200	Weak transcription	GM12878-XiMat	blood
6	chr4:10725400-10729000	Weak transcription	Primary B cells from cord blood	blood
7	chr4:10725600-10726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:10725800-10726200	Weak transcription	Fetal Thymus	thymus
9	chr4:10725800-10728400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:10726000-10747800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:10726200-10726800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:10726200-10726800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:10726200-10726800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:10726200-10728800	Enhancers	Fetal Thymus	thymus
15	chr4:10726400-10728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:10726600-10726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:10726600-10727000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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