Variant report

Variant	esv3355143
Chromosome Location	chr4:125944352-125945700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115199207	chr4:125944363-125944364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149043966	chr4:125944403-125944404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545574305	chr4:125944435-125944436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563976007	chr4:125944442-125944443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531660829	chr4:125944473-125944474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550272620	chr4:125944521-125944522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535762117	chr4:125944522-125944523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144603829	chr4:125944551-125944552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192206935	chr4:125944572-125944573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576237436	chr4:125944597-125944598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368215925	chr4:125944612-125944613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566354588	chr4:125944616-125944617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540170329	chr4:125944619-125944620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558347772	chr4:125944626-125944627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6841381	chr4:125944645-125944646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11935159	chr4:125944702-125944703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142230414	chr4:125944712-125944713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551238023	chr4:125944737-125944738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545139098	chr4:125944749-125944750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370526070	chr4:125944795-125944796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541808784	chr4:125944827-125944828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556625745	chr4:125944841-125944842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6819087	chr4:125944861-125944862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs34214330	chr4:125944909-125944910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35756203	chr4:125944910-125944911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571996239	chr4:125945023-125945024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183542738	chr4:125945027-125945028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370431101	chr4:125945031-125945032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545709206	chr4:125945046-125945047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35278497	chr4:125945069-125945070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12648351	chr4:125945072-125945073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543511044	chr4:125945140-125945141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371804099	chr4:125945161-125945162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188075727	chr4:125945192-125945193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561663721	chr4:125945195-125945196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547753335	chr4:125945224-125945225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530322452	chr4:125945226-125945227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533637885	chr4:125945275-125945276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543612959	chr4:125945289-125945290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552105067	chr4:125945314-125945315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544021692	chr4:125945345-125945346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192964210	chr4:125945366-125945367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376512840	chr4:125945402-125945403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563747507	chr4:125945403-125945404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542299581	chr4:125945458-125945459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368769221	chr4:125945492-125945493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56189956	chr4:125945539-125945540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375591909	chr4:125945602-125945603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535234497	chr4:125945621-125945622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141894912	chr4:125945623-125945624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125933000-125949400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125944000-125944400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:125944200-125944600	Enhancers	Fetal Heart	heart
4	chr4:125944400-125944600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links