Variant report

Variant	esv3361053
Chromosome Location	chr4:127690202-127692150
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	chr4:127677637..127680526-chr4:127689411..127691424,3	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151329923	chr4:127690209-127690210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562775399	chr4:127690233-127690234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530123239	chr4:127690257-127690258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371190725	chr4:127690270-127690271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555984032	chr4:127690273-127690274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566489875	chr4:127690288-127690289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140593374	chr4:127690289-127690290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546550722	chr4:127690316-127690317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78981427	chr4:127690327-127690328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150469099	chr4:127690341-127690342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560360002	chr4:127690353-127690354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557112905	chr4:127690371-127690372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569121310	chr4:127690398-127690399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184805208	chr4:127690412-127690413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554712821	chr4:127690447-127690448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188046748	chr4:127690463-127690464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575176348	chr4:127690509-127690510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74878408	chr4:127690525-127690526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558296232	chr4:127690528-127690529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577449951	chr4:127690573-127690574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544619005	chr4:127690574-127690575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562697386	chr4:127690598-127690599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74810962	chr4:127690632-127690633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180912461	chr4:127690669-127690670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541887688	chr4:127690798-127690799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62322165	chr4:127690818-127690819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527814179	chr4:127690830-127690831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574705151	chr4:127690843-127690844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185316628	chr4:127690889-127690890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11722194	chr4:127690907-127690908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs532435739	chr4:127690925-127690926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546835350	chr4:127690930-127690931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540208818	chr4:127690931-127690932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs66826362	chr4:127690932-127690933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13133708	chr4:127690933-127690934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550894931	chr4:127690953-127690954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528952644	chr4:127690955-127690956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375330479	chr4:127690958-127690959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548710020	chr4:127690985-127690986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536463996	chr4:127691014-127691015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112533698	chr4:127691024-127691025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548276428	chr4:127691048-127691049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200796540	chr4:127691053-127691054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533683883	chr4:127691073-127691074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558514706	chr4:127691087-127691088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9992706	chr4:127691090-127691091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576809189	chr4:127691100-127691101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9992711	chr4:127691106-127691107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62322166	chr4:127691115-127691116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538492120	chr4:127691186-127691187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127683800-127698000	Weak transcription	HMEC	breast
2	chr4:127685200-127698000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:127685600-127693800	Weak transcription	K562	blood
4	chr4:127688400-127693200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:127691800-127698000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links