Variant report

Variant	esv3391563
Chromosome Location	chr4:187397058-187401056
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	chr4:187400808..187402522-chr4:187420720..187422452,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251165	chromatin interactions
ENSG00000212387	chromatin interactions

Extended variants
information (count: 331 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147630319	chr4:187397069-187397070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113895950	chr4:187397074-187397075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199607619	chr4:187397082-187397083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376916430	chr4:187397096-187397097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386683529	chr4:187397104-187397105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200915984	chr4:187397124-187397125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35276862	chr4:187397125-187397126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372775388	chr4:187397128-187397129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56964638	chr4:187397129-187397130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181822046	chr4:187397132-187397133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138887169	chr4:187397135-187397136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372118643	chr4:187397140-187397141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201762737	chr4:187397142-187397143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369982315	chr4:187397178-187397179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565005085	chr4:187397193-187397194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11735650	chr4:187397199-187397200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150086823	chr4:187397206-187397207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368994840	chr4:187397227-187397228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34595190	chr4:187397234-187397235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532163079	chr4:187397237-187397238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76917373	chr4:187397247-187397248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77132675	chr4:187397248-187397249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556332537	chr4:187397251-187397252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538232025	chr4:187397261-187397262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138539726	chr4:187397268-187397269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187374179	chr4:187397271-187397272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149267247	chr4:187397277-187397278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7669166	chr4:187397286-187397287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545501716	chr4:187397291-187397292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554011243	chr4:187397312-187397313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138974728	chr4:187397315-187397316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377348991	chr4:187397341-187397342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542899971	chr4:187397354-187397355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561237866	chr4:187397362-187397363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386683530	chr4:187397363-187397364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192320867	chr4:187397402-187397403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563335845	chr4:187397403-187397404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182350526	chr4:187397406-187397407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146396573	chr4:187397417-187397418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139754463	chr4:187397448-187397449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142816295	chr4:187397452-187397453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187948927	chr4:187397453-187397454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150610218	chr4:187397496-187397497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35141334	chr4:187397515-187397516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528647365	chr4:187397530-187397531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377720253	chr4:187397540-187397541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115046104	chr4:187397570-187397571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111486740	chr4:187397577-187397578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537729622	chr4:187397581-187397582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551341048	chr4:187397649-187397650	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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187395400-187403600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:187395400-187413600	Weak transcription	K562	blood

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