Variant report

Variant	esv3406076
Chromosome Location	chr4:128656152-128658400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128657662..128659612-chr4:128665725..128667631,2	K562	blood:
2	chr4:128653835..128656903-chr4:128701461..128704105,3	K562	blood:
3	chr4:128581030..128583943-chr4:128656313..128658380,2	K562	blood:

Variant related genes	Relation type
ENSG00000164070	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182635178	chr4:128656152-128656153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150028263	chr4:128656154-128656155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563245367	chr4:128656165-128656166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565819943	chr4:128656180-128656181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116755853	chr4:128656223-128656224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115190384	chr4:128656251-128656252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560825716	chr4:128656270-128656271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528288311	chr4:128656294-128656295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185810998	chr4:128656306-128656307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139359874	chr4:128656325-128656326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574514461	chr4:128656381-128656382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532303320	chr4:128656409-128656410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550483648	chr4:128656533-128656534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114608358	chr4:128656555-128656556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144148328	chr4:128656561-128656562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549454105	chr4:128656604-128656605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567695155	chr4:128656618-128656619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535203157	chr4:128656640-128656641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190659571	chr4:128656673-128656674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28570426	chr4:128656755-128656756	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs183867661	chr4:128656756-128656757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539977070	chr4:128656807-128656808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144187702	chr4:128656818-128656819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189076318	chr4:128656840-128656841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542307074	chr4:128656851-128656852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561030934	chr4:128656873-128656874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140591258	chr4:128656911-128656912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200220118	chr4:128656962-128656963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199943450	chr4:128657023-128657024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201144599	chr4:128657024-128657025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201279313	chr4:128657041-128657042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199799173	chr4:128657042-128657043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562326219	chr4:128657043-128657044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200902887	chr4:128657045-128657046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201759042	chr4:128657046-128657047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11098935	chr4:128657047-128657048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370617944	chr4:128657049-128657050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200421728	chr4:128657050-128657051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66487017	chr4:128657051-128657052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs70966054	chr4:128657062-128657063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557982461	chr4:128657102-128657103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371279603	chr4:128657106-128657107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376296758	chr4:128657145-128657146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572888518	chr4:128657197-128657198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540018883	chr4:128657223-128657224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564711095	chr4:128657234-128657235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532191239	chr4:128657263-128657264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550419770	chr4:128657290-128657291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562687017	chr4:128657296-128657297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530924318	chr4:128657323-128657324	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	chr4:128644400-128658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:128658200-128658400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:128658200-128659000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:128658200-128659000	Enhancers	K562	blood
5	chr4:128658400-128658600	Enhancers	Fetal Intestine Large	intestine

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