Variant report

Variant	esv3338652
Chromosome Location	chr4:143258502-143259600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12640900	chr4:143258502-143258503	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370066091	chr4:143258520-143258521	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188354851	chr4:143258521-143258522	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529021262	chr4:143258578-143258579	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552862710	chr4:143258604-143258605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571078635	chr4:143258635-143258636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150243968	chr4:143258655-143258656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553138720	chr4:143258682-143258683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76978993	chr4:143258684-143258685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370814137	chr4:143258689-143258690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547526011	chr4:143258722-143258723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2646089	chr4:143258752-143258753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575138867	chr4:143258779-143258780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545692748	chr4:143258827-143258828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138950563	chr4:143258830-143258831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544832165	chr4:143258845-143258846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201284422	chr4:143258878-143258879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72042250	chr4:143258888-143258889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199763472	chr4:143258889-143258890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574091643	chr4:143258890-143258891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146310068	chr4:143258897-143258898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375963787	chr4:143258905-143258906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201621502	chr4:143258906-143258907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369064613	chr4:143258908-143258909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200398430	chr4:143258909-143258910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201201583	chr4:143258917-143258918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199670603	chr4:143258919-143258920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199623595	chr4:143258920-143258921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370233057	chr4:143258928-143258929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111963582	chr4:143258930-143258931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373689305	chr4:143258937-143258938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539463400	chr4:143258965-143258966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559824064	chr4:143258993-143258994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530133682	chr4:143258999-143259000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367977305	chr4:143259000-143259001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542249026	chr4:143259014-143259015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192200713	chr4:143259036-143259037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7666470	chr4:143259037-143259038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188446043	chr4:143259091-143259092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58807583	chr4:143259161-143259162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191701670	chr4:143259172-143259173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139482469	chr4:143259212-143259213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184145688	chr4:143259221-143259222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546877656	chr4:143259251-143259252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7666932	chr4:143259305-143259306	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535208780	chr4:143259316-143259317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59780536	chr4:143259337-143259338	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2646088	chr4:143259357-143259358	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs36205368	chr4:143259388-143259389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369803204	chr4:143259401-143259402	Weak transcription Enhancers Strong 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
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
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Renal cell carcinoma	20952505	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143217600-143260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:143235600-143266400	Weak transcription	NHEK	skin
4	chr4:143246600-143267800	Weak transcription	Primary T cells from cord blood	blood
5	chr4:143253000-143260200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:143253600-143262600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:143255600-143260000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:143255600-143265800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:143256000-143259400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr4:143256200-143258600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:143256200-143269200	Weak transcription	HSMMtube	muscle
12	chr4:143256800-143260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:143256800-143269800	Weak transcription	NHDF-Ad	bronchial
14	chr4:143257200-143260000	Weak transcription	Gastric	stomach
15	chr4:143257200-143262800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:143257400-143259600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:143257400-143259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:143257600-143260000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:143257600-143272000	Weak transcription	Right Ventricle	heart
20	chr4:143257800-143258600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:143257800-143262600	Weak transcription	HSMM	muscle
22	chr4:143258000-143258600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:143258000-143259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:143258000-143260000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:143258000-143261600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:143258000-143261600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:143258000-143262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:143258000-143262400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:143258000-143262800	Weak transcription	Fetal Intestine Small	intestine
30	chr4:143258000-143263000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:143258000-143263000	Weak transcription	Pancreas	Pancrea
32	chr4:143258000-143265800	Weak transcription	HMEC	breast
33	chr4:143258000-143267000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:143258000-143267000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:143258000-143269200	Weak transcription	Left Ventricle	heart
36	chr4:143258000-143274800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:143258200-143259800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:143258200-143274000	Weak transcription	Dnd41	blood
39	chr4:143258600-143260200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:143259000-143260800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:143259400-143260200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr4:143259600-143259800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr4:143259600-143260200	Enhancers	Small Intestine	intestine

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