Variant report

Variant	esv3373455
Chromosome Location	chr4:131976396-132004019
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	chr4:131991641..131994380-chr4:131997829..132000348,2	MCF-7	breast:
2	chr4:131991641..131994380-chr4:131997829..132000348,2	MCF-7	breast:

Extended variants
information (count: 225 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118150864	chr4:131982432-131982433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs72930345	chr4:131982438-131982439	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557961914	chr4:131982447-131982448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189172779	chr4:131982461-131982462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181581607	chr4:131982507-131982508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557148295	chr4:131982522-131982523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528343377	chr4:131982528-131982529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573967394	chr4:131982548-131982549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs542888920	chr4:131982564-131982565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541671182	chr4:131982569-131982570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553660023	chr4:131982607-131982608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571935957	chr4:131982633-131982634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541066248	chr4:131982641-131982642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187374036	chr4:131982679-131982680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192329849	chr4:131982690-131982691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561890720	chr4:131982692-131982693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116430379	chr4:131982697-131982698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs563498163	chr4:131982698-131982699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183646930	chr4:131982699-131982700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs377536177	chr4:131982721-131982722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186168106	chr4:131982780-131982781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528475414	chr4:131982787-131982788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551760380	chr4:131982852-131982853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571615301	chr4:131982864-131982865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190641319	chr4:131982882-131982883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144072409	chr4:131982910-131982911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs567502163	chr4:131982917-131982918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs423702	chr4:131982919-131982920	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146523550	chr4:131983007-131983008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573482919	chr4:131983185-131983186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557020728	chr4:131983227-131983228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368851846	chr4:131983229-131983230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370641562	chr4:131983235-131983236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530593890	chr4:131983241-131983242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536015147	chr4:131983254-131983255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141150920	chr4:131983256-131983257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577787929	chr4:131983283-131983284	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543524255	chr4:131983288-131983289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554374384	chr4:131983364-131983365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77240782	chr4:131983365-131983366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs429500	chr4:131983376-131983377	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144861415	chr4:131983397-131983398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs388998	chr4:131983434-131983435	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs366963	chr4:131983447-131983448	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145220708	chr4:131983527-131983528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149136201	chr4:131983542-131983543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2220898	chr4:131983567-131983568	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569803766	chr4:131983578-131983579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559489123	chr4:131983631-131983632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529843152	chr4:131983672-131983673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131982400-131983000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:131982400-131983200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:131982400-131983400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:131982600-131983400	ZNF genes & repeats	Dnd41	blood
5	chr4:131982600-131986400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr4:131983000-131985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:131983400-131985000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:131985000-131985800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:131985000-131986400	ZNF genes & repeats	Dnd41	blood
10	chr4:131985000-131986800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:131985200-131985400	ZNF genes & repeats	Pancreas	Pancrea
12	chr4:131985800-131987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:131986600-131986800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links