Variant report

Variant	esv3405109
Chromosome Location	chr4:129166502-129172700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129164832..129166903-chr4:129171386..129173303,2	MCF-7	breast:
2	chr4:129160558..129162519-chr4:129164377..129167421,4	K562	blood:
3	chr4:129165757..129167689-chr4:129191685..129193227,2	K562	blood:
4	chr4:129164832..129166903-chr4:129171386..129173303,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541627610	chr4:129166942-129166943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530699501	chr4:129170430-129170431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78474732	chr4:129170508-129170509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147132193	chr4:129170523-129170524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116739529	chr4:129170524-129170525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs562865622	chr4:129170561-129170562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557186358	chr4:129170566-129170567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs140310597	chr4:129170590-129170591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188999466	chr4:129170608-129170609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560729088	chr4:129170610-129170611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528026025	chr4:129170644-129170645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200904449	chr4:129170645-129170646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs1829726	chr4:129170652-129170653	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181043734	chr4:129170681-129170682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570148720	chr4:129170705-129170706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541230386	chr4:129170706-129170707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs78395676	chr4:129170733-129170734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77473397	chr4:129170736-129170737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76073338	chr4:129170738-129170739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs558517236	chr4:129170742-129170743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62321081	chr4:129170746-129170747	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534769292	chr4:129170759-129170760	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535492533	chr4:129170843-129170844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369772418	chr4:129170849-129170850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555179046	chr4:129170884-129170885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185449277	chr4:129170901-129170902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75037008	chr4:129170904-129170905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572264393	chr4:129170909-129170910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78725788	chr4:129170913-129170914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78956475	chr4:129170918-129170919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574949455	chr4:129170919-129170920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531230256	chr4:129170983-129170984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539770267	chr4:129171014-129171015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374851760	chr4:129171025-129171026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557372598	chr4:129171043-129171044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559830255	chr4:129171080-129171081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558066123	chr4:129171084-129171085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533231147	chr4:129171110-129171111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190210865	chr4:129171119-129171120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562862983	chr4:129171135-129171136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574878234	chr4:129171136-129171137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376825454	chr4:129171146-129171147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542308290	chr4:129171163-129171164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577605003	chr4:129171187-129171188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540599890	chr4:129171241-129171242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560552573	chr4:129171243-129171244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545862404	chr4:129171291-129171292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373479273	chr4:129171315-129171316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181481154	chr4:129171426-129171427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552318875	chr4:129171467-129171468	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
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
Developmental delay	21147756	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129166800-129167000	Enhancers	K562	blood
2	chr4:129170400-129170600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:129170400-129170800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129170600-129173400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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