Variant report

Variant	esv3426193
Chromosome Location	chr4:132444102-132448200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-7	chr4:132444075-132444163	ENSG00000250102.1

Extended variants
information (count: 26 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200994918	chr4:132444127-132444128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs201974618	chr4:132444128-132444129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs80017512	chr4:132444131-132444132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs189743989	chr4:132444162-132444163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs142172497	chr4:132447602-132447603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376399042	chr4:132447618-132447619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548980270	chr4:132447647-132447648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11318213	chr4:132447648-132447649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546347273	chr4:132447695-132447696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566653667	chr4:132447702-132447703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577788431	chr4:132447724-132447725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183888071	chr4:132447826-132447827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537521128	chr4:132447852-132447853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552332739	chr4:132447873-132447874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565745591	chr4:132447889-132447890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs207465073	chr4:132447978-132447979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189351391	chr4:132447985-132447986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538372996	chr4:132448019-132448020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555124212	chr4:132448036-132448037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6850260	chr4:132448042-132448043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs6850270	chr4:132448052-132448053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554360889	chr4:132448065-132448066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181965585	chr4:132448079-132448080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546461260	chr4:132448095-132448096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6850466	chr4:132448129-132448130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553649266	chr4:132448174-132448175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132447600-132447800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:132447800-132452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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