Variant report

Variant	esv3467359
Chromosome Location	chr4:121165143-121167235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555887408	chr4:121165149-121165150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556453825	chr4:121165261-121165262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146554607	chr4:121165316-121165317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28409065	chr4:121165356-121165357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558502952	chr4:121165484-121165485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572671823	chr4:121165487-121165488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541709144	chr4:121165538-121165539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561473673	chr4:121165566-121165567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141315472	chr4:121165619-121165620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544026157	chr4:121165644-121165645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201197207	chr4:121165646-121165647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147016774	chr4:121165682-121165683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532618997	chr4:121165699-121165700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552312397	chr4:121165704-121165705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138097861	chr4:121165722-121165723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140957709	chr4:121165733-121165734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572179907	chr4:121165742-121165743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541578621	chr4:121165778-121165779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56358463	chr4:121165800-121165801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527590814	chr4:121165803-121165804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112474252	chr4:121165848-121165849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541846934	chr4:121165853-121165854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547242971	chr4:121165881-121165882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370415671	chr4:121165901-121165902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561345862	chr4:121165914-121165915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556306966	chr4:121165966-121165967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569677545	chr4:121165987-121165988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538698093	chr4:121165997-121165998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558281696	chr4:121166004-121166005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571964471	chr4:121166021-121166022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189144377	chr4:121166050-121166051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555346903	chr4:121166139-121166140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575172515	chr4:121166167-121166168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149526594	chr4:121166173-121166174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181478745	chr4:121166181-121166182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577284383	chr4:121166221-121166222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546238763	chr4:121166246-121166247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372176898	chr4:121166287-121166288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543744097	chr4:121166310-121166311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143875774	chr4:121166314-121166315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532371077	chr4:121166362-121166363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528512627	chr4:121166377-121166378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148193354	chr4:121166451-121166452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560882309	chr4:121166457-121166458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529915505	chr4:121166460-121166461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141683266	chr4:121166467-121166468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569798000	chr4:121166476-121166477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538362003	chr4:121166507-121166508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559382626	chr4:121166515-121166516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552200753	chr4:121166526-121166527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121163000-121165200	Enhancers	Fetal Lung	lung
2	chr4:121163200-121165200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:121163200-121165400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:121163200-121166400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:121163400-121165200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:121163400-121165200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:121163800-121165400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:121165200-121167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:121165200-121167800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:121165400-121167800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:121166400-121167600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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