Variant report

Variant	esv3441049
Chromosome Location	chr4:149951409-149952800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:149205489..149206358-chr4:149952203..149952753,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR3C2-3	chr4:149952244-149952462	XLOC_004119

Variant related genes	Relation type
LMO2	miRNA target sites

Extended variants
information (count: 45 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534955804	chr4:149951426-149951427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72719896	chr4:149951434-149951435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539976248	chr4:149951519-149951520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568596609	chr4:149951569-149951570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73857632	chr4:149951575-149951576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557012200	chr4:149951596-149951597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190491621	chr4:149951615-149951616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139219450	chr4:149951645-149951646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371889334	chr4:149951690-149951691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184066625	chr4:149951695-149951696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117299703	chr4:149951709-149951710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188899753	chr4:149951721-149951722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192337095	chr4:149951733-149951734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575393392	chr4:149951765-149951766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564518744	chr4:149951900-149951901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149962237	chr4:149951930-149951931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532027055	chr4:149952016-149952017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182713847	chr4:149952038-149952039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546703439	chr4:149952041-149952042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532396954	chr4:149952059-149952060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187239568	chr4:149952179-149952180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559285762	chr4:149952211-149952212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191900596	chr4:149952217-149952218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34106383	chr4:149952231-149952232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548863006	chr4:149952235-149952236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369400571	chr4:149952275-149952276	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs116083467	chr4:149952281-149952282	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs531119645	chr4:149952319-149952320	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs372063802	chr4:149952370-149952371	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs376982841	chr4:149952375-149952376	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs184089599	chr4:149952400-149952401	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs116683994	chr4:149952426-149952427	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs59154095	chr4:149952434-149952435	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548727734	chr4:149952440-149952441	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs189219652	chr4:149952452-149952453	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs535428806	chr4:149952511-149952512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555626086	chr4:149952522-149952523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575382645	chr4:149952536-149952537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544372427	chr4:149952607-149952608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557637529	chr4:149952639-149952640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576938107	chr4:149952667-149952668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9992331	chr4:149952669-149952670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4455396	chr4:149952676-149952677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563094600	chr4:149952678-149952679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193026334	chr4:149952687-149952688	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149951000-149952200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:149951000-149952400	Weak transcription	Stomach Mucosa	stomach
3	chr4:149952200-149952400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr4:149952200-149953000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:149952400-149952800	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links