Variant report

Variant	esv3445246
Chromosome Location	chr4:151422396-151447936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151433373..151435813-chr4:151436387..151438412,2	K562	blood:
2	chr4:151435911..151437740-chr4:151439092..151440946,2	K562	blood:
3	chr4:151416896..151419683-chr4:151431841..151434385,2	K562	blood:
4	chr4:151438844..151440792-chr4:151444543..151446378,2	K562	blood:
5	chr4:151439292..151441236-chr4:151444878..151447222,2	K562	blood:
6	chr4:151438844..151440792-chr4:151444543..151446378,2	K562	blood:
7	chr4:151430964..151434350-chr4:151435972..151438287,3	K562	blood:
8	chr4:151439292..151441236-chr4:151444878..151447222,2	K562	blood:
9	chr4:151428497..151431346-chr4:151431604..151434294,2	K562	blood:
10	chr4:151435911..151437740-chr4:151439092..151440946,2	K562	blood:
11	chr4:151430964..151434350-chr4:151435972..151438287,3	K562	blood:
12	chr4:151447669..151450323-chr4:151450912..151453180,2	K562	blood:
13	chr4:151428497..151431346-chr4:151431604..151434294,2	K562	blood:
14	chr4:151433373..151435813-chr4:151436387..151438412,2	K562	blood:

No data

Extended variants
information (count: 981 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569240984	chr4:151422415-151422416	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565414002	chr4:151422440-151422441	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528205580	chr4:151422501-151422502	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536435176	chr4:151422532-151422533	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548158379	chr4:151422550-151422551	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6829838	chr4:151422592-151422593	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139809017	chr4:151422627-151422628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189219044	chr4:151422636-151422637	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376934613	chr4:151422660-151422661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143216436	chr4:151422669-151422670	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146688932	chr4:151422674-151422675	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567222200	chr4:151422703-151422704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75703078	chr4:151422706-151422707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372362348	chr4:151422766-151422767	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572565788	chr4:151422771-151422772	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534854912	chr4:151422804-151422805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555050324	chr4:151422904-151422905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574702471	chr4:151422909-151422910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543816805	chr4:151422985-151422986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371349561	chr4:151422991-151422992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115305307	chr4:151423052-151423053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139239172	chr4:151423056-151423057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149922676	chr4:151423090-151423091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375636230	chr4:151423109-151423110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377721200	chr4:151423118-151423119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75841702	chr4:151423128-151423129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6856287	chr4:151423133-151423134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113044128	chr4:151423145-151423146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547928990	chr4:151423257-151423258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561828685	chr4:151423299-151423300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116967393	chr4:151423320-151423321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558687200	chr4:151423352-151423353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577156658	chr4:151423389-151423390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145011385	chr4:151423405-151423406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149098714	chr4:151423472-151423473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs36074725	chr4:151423506-151423507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57330514	chr4:151423519-151423520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539383538	chr4:151423540-151423541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143189385	chr4:151423586-151423587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116763346	chr4:151423592-151423593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553409076	chr4:151423658-151423659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147860443	chr4:151423743-151423744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10006175	chr4:151423791-151423792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554732911	chr4:151423810-151423811	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535406403	chr4:151423811-151423812	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574899262	chr4:151423821-151423822	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374925365	chr4:151423822-151423823	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537029727	chr4:151423840-151423841	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6836997	chr4:151423875-151423876	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538730656	chr4:151423876-151423877	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151382400-151422400	Weak transcription	Adipose Nuclei	Adipose
2	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:151387800-151423000	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:151392200-151424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:151395400-151424000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:151400000-151434200	Weak transcription	Primary T cells from cord blood	blood
7	chr4:151409000-151456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:151410000-151444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:151412000-151424200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:151412200-151424200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:151419200-151423800	Weak transcription	Fetal Intestine Small	intestine
12	chr4:151419200-151431000	Weak transcription	Fetal Stomach	stomach
13	chr4:151419200-151436000	Weak transcription	Stomach Mucosa	stomach
14	chr4:151421800-151422800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:151421800-151423400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:151422000-151422600	Enhancers	HSMM	muscle
17	chr4:151422000-151422600	Enhancers	NHLF	lung
18	chr4:151422000-151422800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:151422000-151423400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:151422000-151423600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:151422000-151423800	Enhancers	Osteobl	bone
22	chr4:151422000-151424000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:151422200-151422400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:151422200-151422800	Strong transcription	Primary B cells from cord blood	blood
25	chr4:151422200-151422800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:151422200-151423400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:151422400-151422600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:151422400-151422800	Enhancers	Aorta	Aorta
29	chr4:151422400-151422800	Enhancers	Psoas Muscle	Psoas
30	chr4:151422400-151422800	Enhancers	HMEC	breast
31	chr4:151422400-151423200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:151422400-151423200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:151422400-151423200	Enhancers	Adipose Nuclei	Adipose
34	chr4:151422400-151423600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:151422400-151423600	Enhancers	NHDF-Ad	bronchial
36	chr4:151422600-151422800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:151422600-151438400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:151422800-151423200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:151422800-151474600	Weak transcription	Primary B cells from cord blood	blood
40	chr4:151423000-151423600	Enhancers	Colon Smooth Muscle	Colon
41	chr4:151423600-151426000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:151423800-151424400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr4:151423800-151424600	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr4:151423800-151424800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:151423800-151431000	Weak transcription	Osteobl	bone
46	chr4:151424000-151425000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:151424000-151425600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr4:151425000-151433600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:151425600-151435600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:151430400-151430600	Enhancers	Duodenum Smooth Muscle	Duodenum

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