Variant report

Variant	nsv292161
Chromosome Location	chr4:143289470-143290740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550571479	chr4:143289474-143289475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574463174	chr4:143289479-143289480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369857740	chr4:143289504-143289505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186397667	chr4:143289528-143289529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534754902	chr4:143289544-143289545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373226235	chr4:143289564-143289565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551637075	chr4:143289587-143289588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190944666	chr4:143289592-143289593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534394111	chr4:143289600-143289601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77532745	chr4:143289686-143289687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183310261	chr4:143289743-143289744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs116563849	chr4:143289807-143289808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537898396	chr4:143289855-143289856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78401519	chr4:143289862-143289863	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs398083595	chr4:143289872-143289873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556208664	chr4:143289913-143289914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571523795	chr4:143289936-143289937	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs62328294	chr4:143289939-143289940	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535476837	chr4:143289982-143289983	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34374766	chr4:143290013-143290014	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557257332	chr4:143290017-143290018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188662293	chr4:143290018-143290019	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs140955810	chr4:143290031-143290032	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538972100	chr4:143290067-143290068	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554027323	chr4:143290068-143290069	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572195465	chr4:143290079-143290080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs542811926	chr4:143290126-143290127	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377534277	chr4:143290148-143290149	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76787734	chr4:143290162-143290163	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111434860	chr4:143290180-143290181	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs62328295	chr4:143290182-143290183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11938760	chr4:143290199-143290200	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs377411421	chr4:143290257-143290258	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141968038	chr4:143290281-143290282	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs147289003	chr4:143290307-143290308	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560834972	chr4:143290316-143290317	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs543239067	chr4:143290318-143290319	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs527931817	chr4:143290366-143290367	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191154667	chr4:143290459-143290460	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549562353	chr4:143290474-143290475	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs113751044	chr4:143290540-143290541	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs115408923	chr4:143290552-143290553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs116395508	chr4:143290591-143290592	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573484492	chr4:143290610-143290611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370994834	chr4:143290641-143290642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375587392	chr4:143290660-143290661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541090275	chr4:143290674-143290675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183463293	chr4:143290679-143290680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115723502	chr4:143290687-143290688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553445108	chr4:143290725-143290726	Weak transcription Enhancers	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
2	chr4:143276200-143289800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:143277800-143289800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr4:143278400-143294200	Weak transcription	Stomach Mucosa	stomach
5	chr4:143285000-143294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr4:143285200-143290200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:143285200-143298400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr4:143285800-143290000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:143285800-143290400	Enhancers	NHDF-Ad	bronchial
10	chr4:143286000-143290600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:143286200-143290000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:143286200-143290600	Enhancers	HMEC	breast
13	chr4:143286400-143290400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:143286800-143293800	Weak transcription	Osteobl	bone
15	chr4:143287000-143293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:143288000-143290200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:143288000-143290200	Enhancers	HUVEC	blood vessel
18	chr4:143288000-143290400	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:143288000-143290400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:143288000-143290600	Enhancers	Primary T cells from cord blood	blood
21	chr4:143288000-143290600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:143288000-143293400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:143288200-143290000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:143288400-143290000	Weak transcription	HSMMtube	muscle
25	chr4:143288400-143293800	Weak transcription	Aorta	Aorta
26	chr4:143288800-143290400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:143288800-143296200	Weak transcription	A549	lung
28	chr4:143289000-143289600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:143289000-143289800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:143289000-143289800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:143289000-143290000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:143289000-143290000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:143289000-143290400	Weak transcription	Psoas Muscle	Psoas
34	chr4:143289000-143290600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:143289000-143290600	Enhancers	Dnd41	blood
36	chr4:143289000-143291400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr4:143289000-143293800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:143289000-143293800	Weak transcription	Small Intestine	intestine
39	chr4:143289000-143295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:143289000-143300600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:143289200-143289600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:143289200-143289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:143289200-143289800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr4:143289200-143290000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:143289200-143290000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:143289200-143290400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:143289200-143290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:143289200-143293400	Weak transcription	Fetal Heart	heart
49	chr4:143289200-143300000	Weak transcription	NH-A	brain
50	chr4:143289400-143289800	Weak transcription	HSMM	muscle

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