Variant report

Variant	nsv1030973
Chromosome Location	chr4:152779838-152792879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:152783651..152785975-chr4:152786154..152789103,2	K562	blood:
2	chr4:152791629..152793817-chr4:152795687..152797994,2	K562	blood:
3	chr4:152783651..152785975-chr4:152786154..152789103,2	K562	blood:

Extended variants
information (count: 616 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7657092	chr4:152779838-152779839	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183836894	chr4:152779850-152779851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148322397	chr4:152779853-152779854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140516153	chr4:152779858-152779859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538824952	chr4:152779965-152779966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34153529	chr4:152779966-152779967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550643174	chr4:152779974-152779975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34538784	chr4:152779990-152779991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188630012	chr4:152780032-152780033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181283245	chr4:152780051-152780052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368882652	chr4:152780065-152780066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147082344	chr4:152780071-152780072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534064216	chr4:152780073-152780074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183574230	chr4:152780075-152780076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577408640	chr4:152780079-152780080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544779734	chr4:152780087-152780088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375893914	chr4:152780121-152780122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17275863	chr4:152780224-152780225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575080359	chr4:152780236-152780237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200552383	chr4:152780239-152780240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542511937	chr4:152780248-152780249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115638440	chr4:152780300-152780301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549074168	chr4:152780301-152780302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528076410	chr4:152780316-152780317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116215380	chr4:152780322-152780323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373401862	chr4:152780338-152780339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138454457	chr4:152780386-152780387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532070063	chr4:152780413-152780414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113112470	chr4:152780432-152780433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189614738	chr4:152780466-152780467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376419399	chr4:152780469-152780470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28488530	chr4:152780509-152780510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs17027952	chr4:152780526-152780527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548066560	chr4:152780571-152780572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377643830	chr4:152780603-152780604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144010624	chr4:152780610-152780611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558663705	chr4:152780627-152780628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570930262	chr4:152780641-152780642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376524636	chr4:152780646-152780647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536439	chr4:152780684-152780685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs9918050	chr4:152780739-152780740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542572689	chr4:152780761-152780762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554503933	chr4:152780784-152780785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572917760	chr4:152780791-152780792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182084599	chr4:152780816-152780817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564679974	chr4:152780853-152780854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116571812	chr4:152780883-152780884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138946584	chr4:152780918-152780919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562739276	chr4:152780932-152780933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17027954	chr4:152780960-152780961	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152779000-152788600	Weak transcription	Pancreas	Pancrea
2	chr4:152779200-152786000	Weak transcription	Right Ventricle	heart
3	chr4:152779400-152782000	Enhancers	HSMMtube	muscle
4	chr4:152779800-152780000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:152780200-152781400	Enhancers	HSMM	muscle
6	chr4:152780800-152789000	Enhancers	Fetal Brain Male	brain
7	chr4:152781000-152781200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:152781200-152794800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:152782000-152782400	Enhancers	Fetal Brain Female	brain
10	chr4:152782400-152784800	Weak transcription	Fetal Brain Female	brain
11	chr4:152784800-152785400	Enhancers	Fetal Brain Female	brain
12	chr4:152785000-152785400	Enhancers	Fetal Thymus	thymus
13	chr4:152785000-152786000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr4:152785200-152789400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:152785400-152785800	Weak transcription	Fetal Thymus	thymus
16	chr4:152785400-152786400	Weak transcription	Fetal Brain Female	brain
17	chr4:152785800-152786000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
18	chr4:152785800-152786400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:152785800-152788600	Enhancers	Fetal Thymus	thymus
20	chr4:152786000-152786200	Enhancers	Brain Cingulate Gyrus	brain
21	chr4:152786000-152786400	Enhancers	Right Ventricle	heart
22	chr4:152786000-152786600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:152786000-152786800	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:152786000-152786800	Enhancers	GM12878-XiMat	blood
25	chr4:152786000-152787000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:152786000-152787000	Enhancers	Dnd41	blood
27	chr4:152786000-152787200	Enhancers	Adipose Nuclei	Adipose
28	chr4:152786000-152788000	Enhancers	Fetal Heart	heart
29	chr4:152786000-152789000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr4:152786000-152789000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr4:152786200-152786600	Enhancers	Brain Hippocampus Middle	brain
32	chr4:152786200-152787600	Enhancers	Primary hematopoietic stem cells	blood
33	chr4:152786200-152787800	Enhancers	Brain Anterior Caudate	brain
34	chr4:152786200-152787800	Enhancers	Left Ventricle	heart
35	chr4:152786200-152789200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr4:152786400-152786600	Weak transcription	Right Ventricle	heart
37	chr4:152786400-152787200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:152786400-152787200	Enhancers	Fetal Muscle Trunk	muscle
39	chr4:152786400-152787400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:152786400-152787600	Enhancers	Colon Smooth Muscle	Colon
41	chr4:152786400-152788000	Enhancers	Primary B cells from cord blood	blood
42	chr4:152786400-152788000	Enhancers	Fetal Muscle Leg	muscle
43	chr4:152786400-152788600	Enhancers	Thymus	Thymus
44	chr4:152786400-152788800	Enhancers	Fetal Brain Female	brain
45	chr4:152786600-152787200	Enhancers	Brain Germinal Matrix	brain
46	chr4:152786600-152787400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:152786600-152787600	Enhancers	Right Ventricle	heart
48	chr4:152786600-152788400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:152786800-152787400	Active TSS	Stomach Smooth Muscle	stomach
50	chr4:152786800-152787800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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