Variant report

Variant	esv3466394
Chromosome Location	chr4:152340646-152341623
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	chr4:152337823..152339848-chr4:152340887..152343384,2	K562	blood:
2	chr4:152334377..152337765-chr4:152341477..152345908,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565697740	chr4:152340663-152340664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs70941499	chr4:152340741-152340742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10010924	chr4:152340909-152340910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10013444	chr4:152341025-152341026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539526933	chr4:152341204-152341205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573815105	chr4:152341239-152341240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112668894	chr4:152341256-152341257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557598687	chr4:152341313-152341314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569832800	chr4:152341410-152341411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536889879	chr4:152341421-152341422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555548180	chr4:152341439-152341440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573553245	chr4:152341459-152341460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540950559	chr4:152341461-152341462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552933011	chr4:152341462-152341463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577642849	chr4:152341498-152341499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181125710	chr4:152341499-152341500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563671772	chr4:152341550-152341551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531041768	chr4:152341557-152341558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540935669	chr4:152341605-152341606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152332000-152347600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:152337800-152340800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:152338400-152341800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:152338400-152362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:152338600-152342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:152338600-152342400	Enhancers	HMEC	breast
7	chr4:152339400-152340800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:152339800-152341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:152339800-152351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:152340000-152342200	Enhancers	HUVEC	blood vessel
11	chr4:152340000-152349600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:152340200-152341800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:152340400-152340800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:152340400-152341400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:152340400-152341600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:152340400-152341600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:152340400-152341600	Weak transcription	NH-A	brain
18	chr4:152340400-152343000	Enhancers	NHEK	skin
19	chr4:152340600-152340800	Enhancers	Psoas Muscle	Psoas
20	chr4:152340600-152341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:152340600-152341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:152340600-152341600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:152340600-152341600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:152340600-152341600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:152340600-152341600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr4:152340600-152341600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:152340600-152341600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:152340600-152341600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:152340600-152341600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:152340600-152341600	Weak transcription	HSMM	muscle
31	chr4:152340600-152341600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:152340600-152341800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:152340600-152341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:152340600-152341800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:152340600-152344000	Weak transcription	Small Intestine	intestine
36	chr4:152340600-152347000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:152340600-152353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:152340800-152341200	Weak transcription	Psoas Muscle	Psoas
39	chr4:152340800-152341800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:152340800-152342800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:152341000-152341400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:152341200-152342400	Enhancers	Psoas Muscle	Psoas
43	chr4:152341400-152342200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:152341400-152345800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:152341600-152341800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:152341600-152341800	Enhancers	NH-A	brain
47	chr4:152341600-152342000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:152341600-152342000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:152341600-152342000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:152341600-152342000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links