Variant report

Variant	esv3343433
Chromosome Location	chr4:120559454-120562352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE5A-1	chr4:120559333-120559618	XLOC_004057

Extended variants
information (count: 85 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374300529	chr4:120559465-120559466	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs112637950	chr4:120559529-120559530	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532943627	chr4:120559558-120559559	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs552670408	chr4:120559565-120559566	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs529134073	chr4:120559622-120559623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191004734	chr4:120559681-120559682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552933912	chr4:120559701-120559702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533940497	chr4:120559800-120559801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76501083	chr4:120559805-120559806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576000084	chr4:120559856-120559857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2389880	chr4:120559870-120559871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs535889121	chr4:120559881-120559882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555717327	chr4:120559901-120559902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575763619	chr4:120559951-120559952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536914472	chr4:120559983-120559984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538359568	chr4:120560141-120560142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558578922	chr4:120560142-120560143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182890946	chr4:120560157-120560158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139461587	chr4:120560227-120560228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551098106	chr4:120560255-120560256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541605435	chr4:120560271-120560272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561475031	chr4:120560304-120560305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141692271	chr4:120560305-120560306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73842681	chr4:120560314-120560315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371564675	chr4:120560331-120560332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143702775	chr4:120560354-120560355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533640147	chr4:120560386-120560387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559757175	chr4:120560470-120560471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527532384	chr4:120560505-120560506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201197737	chr4:120560538-120560539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187443457	chr4:120560539-120560540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567475151	chr4:120560541-120560542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78984194	chr4:120560545-120560546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549628294	chr4:120560547-120560548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569315837	chr4:120560554-120560555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192956092	chr4:120560567-120560568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202053835	chr4:120560583-120560584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548452419	chr4:120560807-120560808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375051722	chr4:120560919-120560920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534935263	chr4:120560940-120560941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368345449	chr4:120560963-120560964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575052728	chr4:120560991-120560992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534078408	chr4:120561009-120561010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34637178	chr4:120561041-120561042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183138338	chr4:120561043-120561044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36108919	chr4:120561077-120561078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577318794	chr4:120561095-120561096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140249440	chr4:120561178-120561179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186922342	chr4:120561239-120561240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113211362	chr4:120561242-120561243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120558600-120560000	Enhancers	Fetal Stomach	stomach
2	chr4:120559000-120560000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:120559200-120559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:120559400-120559800	Enhancers	Osteobl	bone
5	chr4:120559400-120560000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:120559400-120560000	Enhancers	NHDF-Ad	bronchial
7	chr4:120559400-120560000	Enhancers	NHLF	lung
8	chr4:120559400-120561000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:120559600-120560000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:120559800-120567800	Weak transcription	Osteobl	bone
11	chr4:120560000-120564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:120560000-120567800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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