Variant report

Variant	esv3426711
Chromosome Location	chr4:120906804-120908702
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	chr4:120898790..120900807-chr4:120905834..120908765,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570515940	chr4:120906817-120906818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539548352	chr4:120906818-120906819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114191773	chr4:120906838-120906839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13134389	chr4:120906872-120906873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13134390	chr4:120906878-120906879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193065776	chr4:120906918-120906919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566596728	chr4:120906928-120906929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17008457	chr4:120906992-120906993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146051508	chr4:120907013-120907014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575885872	chr4:120907045-120907046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369356713	chr4:120907084-120907085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544719796	chr4:120907144-120907145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141657560	chr4:120907146-120907147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372799220	chr4:120907148-120907149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532605334	chr4:120907156-120907157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375234440	chr4:120907183-120907184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577677750	chr4:120907194-120907195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10213223	chr4:120907281-120907282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560088720	chr4:120907323-120907324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184633557	chr4:120907356-120907357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72684596	chr4:120907394-120907395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10212964	chr4:120907409-120907410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373967926	chr4:120907436-120907437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9307482	chr4:120907497-120907498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12510863	chr4:120907499-120907500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12503187	chr4:120907523-120907524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548589128	chr4:120907538-120907539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141930149	chr4:120907541-120907542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67455039	chr4:120907542-120907543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386401302	chr4:120907549-120907550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10659493	chr4:120907551-120907552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35820913	chr4:120907552-120907553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541230969	chr4:120907553-120907554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539510738	chr4:120907559-120907560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546695374	chr4:120907560-120907561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537541820	chr4:120907566-120907567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566603567	chr4:120907609-120907610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562541173	chr4:120907626-120907627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72139483	chr4:120907641-120907642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535419033	chr4:120907643-120907644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143740794	chr4:120907646-120907647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59482718	chr4:120907648-120907649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569489773	chr4:120907670-120907671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187579975	chr4:120907672-120907673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146814948	chr4:120907715-120907716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548666350	chr4:120907750-120907751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112076865	chr4:120907785-120907786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149086563	chr4:120907787-120907788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6848759	chr4:120907798-120907799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142145117	chr4:120907907-120907908	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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120906400-120911000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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