Variant report

Variant	esv14771
Chromosome Location	chr4:90580433-90592288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-2	chr4:90581365-90581506	ENSG00000251095.1

Extended variants
information (count: 451 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541709315	chr4:90580438-90580439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556694440	chr4:90580468-90580469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112036682	chr4:90580505-90580506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377416064	chr4:90580551-90580552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577838028	chr4:90580570-90580571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575006860	chr4:90580576-90580577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545460638	chr4:90580650-90580651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187626603	chr4:90580744-90580745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115990836	chr4:90580748-90580749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539731084	chr4:90580773-90580774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540210541	chr4:90580777-90580778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538926775	chr4:90580811-90580812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559836562	chr4:90580842-90580843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530417577	chr4:90580861-90580862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548500589	chr4:90580890-90580891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556239685	chr4:90580920-90580921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372615672	chr4:90580934-90580935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543960298	chr4:90580989-90580990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192047890	chr4:90580992-90580993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556868982	chr4:90581001-90581002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112705564	chr4:90581003-90581004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28545331	chr4:90581017-90581018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115492977	chr4:90581106-90581107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116804561	chr4:90581157-90581158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546973168	chr4:90581180-90581181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572724881	chr4:90581184-90581185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535524342	chr4:90581203-90581204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555467071	chr4:90581219-90581220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376105899	chr4:90581231-90581232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535703040	chr4:90581234-90581235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572300574	chr4:90581235-90581236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183068	chr4:90581236-90581237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541265574	chr4:90581245-90581246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556755698	chr4:90581276-90581277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575069125	chr4:90581279-90581280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539225961	chr4:90581282-90581283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185620502	chr4:90581302-90581303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572885920	chr4:90581306-90581307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200929872	chr4:90581309-90581310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539895048	chr4:90581345-90581346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561677495	chr4:90581409-90581410	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs575040816	chr4:90581414-90581415	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs561760026	chr4:90581432-90581433	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs573741338	chr4:90581436-90581437	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs542281553	chr4:90581440-90581441	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs34757029	chr4:90581508-90581509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542505617	chr4:90581531-90581532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139428186	chr4:90581551-90581552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531154776	chr4:90581589-90581590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139536641	chr4:90581621-90581622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
lymphocytic leukemia	21291569	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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90577800-90602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:90579000-90581600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:90580000-90581400	Weak transcription	HMEC	breast
4	chr4:90580000-90581400	Weak transcription	NHEK	skin
5	chr4:90581000-90583400	Enhancers	Hela-S3	cervix
6	chr4:90581400-90582200	Enhancers	NHEK	skin
7	chr4:90581400-90587200	Enhancers	HMEC	breast
8	chr4:90581600-90583200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:90581600-90583200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:90581600-90583400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:90581600-90583800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:90581600-90587200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:90581800-90582200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:90581800-90583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:90581800-90583200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:90581800-90585800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:90581800-90587400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:90582200-90582400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:90582200-90582600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:90582200-90582800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:90582200-90583000	Enhancers	HUVEC	blood vessel
22	chr4:90582200-90583000	Flanking Active TSS	NHEK	skin
23	chr4:90582200-90583000	Enhancers	Osteobl	bone
24	chr4:90582200-90583200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:90582200-90583200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:90582200-90583200	Enhancers	NH-A	brain
27	chr4:90582400-90582800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:90582400-90582800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:90582400-90582800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:90582400-90582800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:90582400-90582800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:90582400-90582800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:90582400-90583000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:90582400-90583000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:90582400-90583000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:90582400-90583000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:90582400-90583000	Enhancers	HSMMtube	muscle
38	chr4:90582400-90583000	Enhancers	NHLF	lung
39	chr4:90582400-90583200	Enhancers	HSMM	muscle
40	chr4:90582600-90602600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:90582800-90583000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:90582800-90583000	Enhancers	Ovary	ovary
43	chr4:90582800-90583200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:90583000-90584800	Weak transcription	Ovary	ovary
45	chr4:90583000-90586800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:90583000-90587400	Enhancers	NHEK	skin
47	chr4:90583200-90585400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:90583400-90585000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:90583800-90584400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:90584400-90584600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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