Variant report

Variant	esv3467376
Chromosome Location	chr4:130954257-130955944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf33-6	chr4:130954279-130954390	ucscGeneNc_uc003igw_1

Extended variants
information (count: 75 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67901610	chr4:130954335-130954336	Enhancers Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112112209	chr4:130954355-130954356	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs555355540	chr4:130954381-130954382	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs573727908	chr4:130954386-130954387	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559352845	chr4:130954388-130954389	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs577833047	chr4:130954400-130954401	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544741771	chr4:130954421-130954422	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144293499	chr4:130954422-130954423	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184127193	chr4:130954466-130954467	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139215950	chr4:130954477-130954478	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545789622	chr4:130954490-130954491	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562034896	chr4:130954491-130954492	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370469908	chr4:130954507-130954508	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60016092	chr4:130954586-130954587	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557293350	chr4:130954613-130954614	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74814453	chr4:130954627-130954628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565709391	chr4:130954676-130954677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545066057	chr4:130954689-130954690	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377232624	chr4:130954713-130954714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551569168	chr4:130954717-130954718	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569863616	chr4:130954735-130954736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188311419	chr4:130954746-130954747	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192592102	chr4:130954754-130954755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567577355	chr4:130954798-130954799	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534885718	chr4:130954833-130954834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375743658	chr4:130954852-130954853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553018008	chr4:130954919-130954920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576345816	chr4:130954926-130954927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533057202	chr4:130954979-130954980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201775942	chr4:130954992-130954993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545113369	chr4:130954995-130954996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386401487	chr4:130954999-130955000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574221395	chr4:130955027-130955028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112914079	chr4:130955035-130955036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552007945	chr4:130955039-130955040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60212050	chr4:130955042-130955043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57175948	chr4:130955043-130955044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576616956	chr4:130955049-130955050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143241092	chr4:130955068-130955069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55792571	chr4:130955074-130955075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529566890	chr4:130955124-130955125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541292965	chr4:130955135-130955136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559355938	chr4:130955142-130955143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533152674	chr4:130955180-130955181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551901718	chr4:130955186-130955187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570044701	chr4:130955189-130955190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185373972	chr4:130955256-130955257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189181761	chr4:130955279-130955280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567432699	chr4:130955309-130955310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140241977	chr4:130955320-130955321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Hepatocellular carcinoma	16750200	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130946600-130959600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:130950800-130959600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:130952000-130954800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:130952600-130965000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:130952800-130954800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:130953000-130954600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:130953400-130954800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:130953800-130954600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:130954000-130954800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:130954600-130960600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:130954800-130966000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:130954800-130966200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:130954800-130966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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