Variant report

Variant	esv3389977
Chromosome Location	chr4:102773229-102774327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191785989	chr4:102773267-102773268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553916502	chr4:102773293-102773294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576757871	chr4:102773308-102773309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111314358	chr4:102773318-102773319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536506290	chr4:102773342-102773343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562254014	chr4:102773367-102773368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529242954	chr4:102773408-102773409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183191943	chr4:102773418-102773419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559729014	chr4:102773427-102773428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533244223	chr4:102773445-102773446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138869976	chr4:102773457-102773458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559479148	chr4:102773465-102773466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188124809	chr4:102773519-102773520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149378289	chr4:102773611-102773612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190905146	chr4:102773624-102773625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541955636	chr4:102773627-102773628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376116664	chr4:102773659-102773660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567472987	chr4:102773660-102773661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57009245	chr4:102773661-102773662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56950886	chr4:102773662-102773663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs113247651	chr4:102773663-102773664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113569379	chr4:102773664-102773665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77031530	chr4:102773668-102773669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182376145	chr4:102773696-102773697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577594699	chr4:102773700-102773701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368771130	chr4:102773734-102773735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538737882	chr4:102773759-102773760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4607219	chr4:102773838-102773839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs576671991	chr4:102773841-102773842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187705130	chr4:102773847-102773848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144753781	chr4:102773878-102773879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574233669	chr4:102773884-102773885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532892431	chr4:102773886-102773887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541735281	chr4:102773937-102773938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115266946	chr4:102773979-102773980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536035090	chr4:102774017-102774018	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558397747	chr4:102774064-102774065	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533195005	chr4:102774089-102774090	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs41507945	chr4:102774138-102774139	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192550579	chr4:102774168-102774169	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530588885	chr4:102774178-102774179	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548922720	chr4:102774192-102774193	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138302576	chr4:102774198-102774199	Weak transcription Flanking Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78316502	chr4:102774206-102774207	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141951897	chr4:102774224-102774225	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546920183	chr4:102774234-102774235	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142792071	chr4:102774236-102774237	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538650968	chr4:102774310-102774311	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185074977	chr4:102774314-102774315	Weak transcription Enhancers Flanking Active TSS Genic enhancers	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102757400-102784600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:102772600-102774000	Enhancers	Primary B cells from cord blood	blood
3	chr4:102773000-102774000	Weak transcription	GM12878-XiMat	blood
4	chr4:102773200-102774000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:102773200-102774000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:102773200-102786200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:102774000-102774400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr4:102774000-102774600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:102774000-102775400	Enhancers	GM12878-XiMat	blood
10	chr4:102774000-102776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:102774000-102786800	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr4:102774200-102774400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:102774200-102774600	Enhancers	A549	lung
14	chr4:102774200-102775400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:102774200-102775600	Enhancers	NH-A	brain

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