Variant report

Variant	esv3343515
Chromosome Location	chr4:100617029-100621427
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	chr4:100618918..100621317-chr4:100629954..100633305,3	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75529623	chr4:100617045-100617046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562209967	chr4:100617156-100617157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564814616	chr4:100617163-100617164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576630199	chr4:100617165-100617166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544070121	chr4:100617181-100617182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562175635	chr4:100617260-100617261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141589062	chr4:100617287-100617288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150447394	chr4:100617358-100617359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386677748	chr4:100617378-100617379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370158237	chr4:100617384-100617385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138264344	chr4:100617385-100617386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553760894	chr4:100617392-100617393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533373077	chr4:100617449-100617450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551459891	chr4:100617606-100617607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71614608	chr4:100617611-100617612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531542291	chr4:100617625-100617626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550039931	chr4:100617634-100617635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533476578	chr4:100617695-100617696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567964151	chr4:100617742-100617743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551945804	chr4:100617772-100617773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181503880	chr4:100617787-100617788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78152550	chr4:100617797-100617798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35004975	chr4:100617838-100617839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535228206	chr4:100617947-100617948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553462442	chr4:100617948-100617949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17029334	chr4:100617956-100617957	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539438749	chr4:100617972-100617973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557494770	chr4:100618001-100618002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533146807	chr4:100618031-100618032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552462851	chr4:100618032-100618033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186280228	chr4:100618081-100618082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6815796	chr4:100618105-100618106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556021629	chr4:100618106-100618107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190699269	chr4:100618134-100618135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369390649	chr4:100618139-100618140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541596131	chr4:100618193-100618194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559901425	chr4:100618202-100618203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55995913	chr4:100618231-100618232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545469554	chr4:100618281-100618282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35215295	chr4:100618297-100618298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530930692	chr4:100618308-100618309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149626318	chr4:100618327-100618328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113490300	chr4:100618350-100618351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529071775	chr4:100618378-100618379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60228486	chr4:100618385-100618386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372019014	chr4:100618391-100618392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565514554	chr4:100618410-100618411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539189518	chr4:100618459-100618460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141906704	chr4:100618460-100618461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72901515	chr4:100618465-100618466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Autism	18414403	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
Hirschsprung''s Disease	21712996	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100612800-100618000	Weak transcription	Psoas Muscle	Psoas
2	chr4:100617600-100618800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr4:100617600-100619000	Enhancers	Fetal Muscle Leg	muscle
4	chr4:100618000-100618800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr4:100618000-100619000	Enhancers	Psoas Muscle	Psoas
6	chr4:100618600-100619000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:100619000-100620000	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:100620000-100620600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:100620200-100620400	Enhancers	Fetal Muscle Leg	muscle

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