Variant report

Variant	esv16276
Chromosome Location	chr4:148020787-148022707
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	chr4:147891557..147893991-chr4:148019262..148022234,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537772779	chr4:148020815-148020816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557663185	chr4:148020821-148020822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11940672	chr4:148020837-148020838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11945471	chr4:148020863-148020864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11946419	chr4:148020872-148020873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573209225	chr4:148020931-148020932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189465557	chr4:148020954-148020955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555376712	chr4:148020982-148020983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141612063	chr4:148020995-148020996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543335995	chr4:148020996-148020997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181946848	chr4:148021005-148021006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184934129	chr4:148021039-148021040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372508373	chr4:148021044-148021045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545634928	chr4:148021063-148021064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386680559	chr4:148021086-148021087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11941654	chr4:148021087-148021088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs35836963	chr4:148021089-148021090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150302587	chr4:148021101-148021102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186751604	chr4:148021131-148021132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1911588	chr4:148021144-148021145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551310339	chr4:148021145-148021146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11947471	chr4:148021155-148021156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534275289	chr4:148021219-148021220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17022600	chr4:148021230-148021231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs137870275	chr4:148021235-148021236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549372611	chr4:148021308-148021309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567039782	chr4:148021317-148021318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562545225	chr4:148021350-148021351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62343699	chr4:148021351-148021352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17022603	chr4:148021420-148021421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149433188	chr4:148021451-148021452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537810459	chr4:148021479-148021480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191539461	chr4:148021480-148021481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114229853	chr4:148021522-148021523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183151135	chr4:148021539-148021540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559316843	chr4:148021541-148021542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572968139	chr4:148021562-148021563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9968288	chr4:148021578-148021579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373610811	chr4:148021582-148021583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11365203	chr4:148021583-148021584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34325757	chr4:148021592-148021593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397880704	chr4:148021598-148021599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397880093	chr4:148021599-148021600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76092720	chr4:148021600-148021601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144813066	chr4:148021609-148021610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187803685	chr4:148021642-148021643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148584231	chr4:148021644-148021645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62343700	chr4:148021649-148021650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533495264	chr4:148021651-148021652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370381153	chr4:148021652-148021653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148010000-148022800	Weak transcription	NHLF	lung
2	chr4:148010400-148021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:148017600-148022600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:148017600-148023000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:148018600-148022600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:148019000-148022600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:148019000-148022800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:148020000-148020800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:148020800-148024600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:148022600-148023400	Enhancers	Liver	Liver
11	chr4:148022600-148024200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:148022600-148024200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:148022600-148024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:148022600-148024400	Enhancers	NHDF-Ad	bronchial
15	chr4:148022600-148024600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links