Variant report

Variant	nsv968781
Chromosome Location	chr4:131312876-131325618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 265 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531635755	chr4:131314055-131314056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567718086	chr4:131314067-131314068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138100192	chr4:131314100-131314101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191224172	chr4:131314119-131314120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534642799	chr4:131314141-131314142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538539313	chr4:131314149-131314150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1509436	chr4:131314154-131314155	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565243769	chr4:131314202-131314203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575182250	chr4:131314206-131314207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536419304	chr4:131314220-131314221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181892041	chr4:131314243-131314244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532487407	chr4:131314268-131314269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10022683	chr4:131314343-131314344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564870893	chr4:131314355-131314356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576954558	chr4:131314387-131314388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544234412	chr4:131314456-131314457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563923438	chr4:131314471-131314472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547087442	chr4:131314486-131314487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12505573	chr4:131314535-131314536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376268768	chr4:131314544-131314545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1509435	chr4:131314574-131314575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549413087	chr4:131314598-131314599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528561926	chr4:131314612-131314613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546822427	chr4:131314674-131314675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373772661	chr4:131314712-131314713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375090857	chr4:131314784-131314785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185441435	chr4:131314823-131314824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60825362	chr4:131314837-131314838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550585599	chr4:131314853-131314854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75091867	chr4:131314872-131314873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189747936	chr4:131314883-131314884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143659812	chr4:131314884-131314885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573001952	chr4:131314897-131314898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77326434	chr4:131314898-131314899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371470150	chr4:131314900-131314901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78913500	chr4:131314903-131314904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12331990	chr4:131314946-131314947	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544198671	chr4:131314986-131314987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562481612	chr4:131314991-131314992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575877876	chr4:131314997-131314998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73848503	chr4:131315070-131315071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561527503	chr4:131315072-131315073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138244223	chr4:131315079-131315080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546796544	chr4:131315088-131315089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182447902	chr4:131315109-131315110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188323390	chr4:131315132-131315133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532486116	chr4:131315134-131315135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79782784	chr4:131315143-131315144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571483802	chr4:131315148-131315149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533660794	chr4:131315156-131315157	Enhancers Weak 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
Thoracic aortic aneurysm	21092924	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
Breast cancer	16272173	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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131314000-131317400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:131314000-131317600	Weak transcription	NHDF-Ad	bronchial
3	chr4:131314200-131315000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:131314200-131315200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:131314200-131315200	Enhancers	Fetal Heart	heart
6	chr4:131314400-131318000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:131314600-131315200	Enhancers	Osteobl	bone
8	chr4:131314600-131315400	Enhancers	NH-A	brain
9	chr4:131314600-131316200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:131314600-131317000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:131314800-131315200	Enhancers	HSMM	muscle
12	chr4:131315000-131316000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:131315200-131316400	Weak transcription	Osteobl	bone
14	chr4:131315200-131316600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:131315200-131317400	Weak transcription	HSMM	muscle
16	chr4:131315400-131317000	Weak transcription	NH-A	brain
17	chr4:131316000-131316800	Enhancers	HMEC	breast
18	chr4:131316000-131317200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:131316000-131317600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:131316200-131318000	Enhancers	HUVEC	blood vessel
21	chr4:131316400-131317600	Enhancers	Osteobl	bone
22	chr4:131316600-131316800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:131316800-131317200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:131317000-131317400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:131317000-131317600	Enhancers	NH-A	brain
26	chr4:131317200-131317600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:131317400-131317600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:131317400-131317600	Enhancers	HSMM	muscle
29	chr4:131317400-131317800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:131317400-131317800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr4:131317600-131317800	Enhancers	NHDF-Ad	bronchial
32	chr4:131317800-131318200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:131322000-131322200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:131323400-131323800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:131323800-131324800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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