Variant report

Variant	nsv879016
Chromosome Location	chr4:54638218-54710952
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:54064541..54065429-chr4:54671103..54671657,2	K562	blood:
2	chr4:54572400..54573190-chr4:54670618..54671680,4	MCF-7	breast:
3	chr4:54662024..54664830-chr4:54666037..54667800,2	K562	blood:
4	chr4:54637798..54639736-chr4:54642892..54644483,2	K562	blood:
5	chr4:54678928..54681395-chr4:54684729..54686903,2	K562	blood:
6	chr4:54063475..54064115-chr4:54670630..54671704,5	K562	blood:
7	chr4:54678928..54681395-chr4:54684729..54686903,2	K562	blood:
8	chr4:54637798..54639736-chr4:54642892..54644483,2	K562	blood:
9	chr4:54662024..54664830-chr4:54666037..54667800,2	K562	blood:
10	chr4:54631461..54634039-chr4:54637339..54639127,3	K562	blood:

No data

Extended variants
information (count: 1886 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1886 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6858638	chr4:54638218-54638219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150733325	chr4:54638233-54638234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372541218	chr4:54638236-54638237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139889803	chr4:54638258-54638259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183854679	chr4:54638301-54638302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112523047	chr4:54638308-54638309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56011613	chr4:54638343-54638344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546676664	chr4:54638374-54638375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531015093	chr4:54638387-54638388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17083451	chr4:54638390-54638391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563464825	chr4:54638391-54638392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140049785	chr4:54638396-54638397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74572449	chr4:54638397-54638398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189020298	chr4:54638401-54638402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146845223	chr4:54638436-54638437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565701770	chr4:54638496-54638497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139773014	chr4:54638589-54638590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551339952	chr4:54638593-54638594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571281526	chr4:54638598-54638599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4305579	chr4:54638662-54638663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115887317	chr4:54638684-54638685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2412493	chr4:54638699-54638700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144489111	chr4:54638732-54638733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60745181	chr4:54638740-54638741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573188054	chr4:54638741-54638742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545102494	chr4:54638753-54638754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569449133	chr4:54638823-54638824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565279582	chr4:54638882-54638883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149130558	chr4:54638884-54638885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376666024	chr4:54638892-54638893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181629693	chr4:54638909-54638910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565923231	chr4:54638920-54638921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11929959	chr4:54638976-54638977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549313558	chr4:54638984-54638985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2412492	chr4:54639004-54639005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572834268	chr4:54639011-54639012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111526488	chr4:54639012-54639013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528363902	chr4:54639020-54639021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551135008	chr4:54639028-54639029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370505176	chr4:54639068-54639069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17083453	chr4:54639073-54639074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372962319	chr4:54639083-54639084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376613522	chr4:54639089-54639090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370452411	chr4:54639126-54639127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184273407	chr4:54639239-54639240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550601356	chr4:54639250-54639251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143290742	chr4:54639286-54639287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78230322	chr4:54639294-54639295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553131434	chr4:54639345-54639346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190539769	chr4:54639352-54639353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21525872	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54633400-54643200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:54635000-54638800	Enhancers	Fetal Stomach	stomach
3	chr4:54635800-54642800	Weak transcription	NHLF	lung
4	chr4:54636200-54643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:54637000-54638400	Enhancers	Fetal Lung	lung
6	chr4:54638200-54638600	Enhancers	Fetal Kidney	kidney
7	chr4:54638200-54643000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:54638800-54643400	Weak transcription	Fetal Stomach	stomach
9	chr4:54642800-54644800	Enhancers	NHLF	lung
10	chr4:54642800-54645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:54643000-54645200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:54643200-54643600	Enhancers	HepG2	liver
13	chr4:54643200-54643600	Enhancers	HMEC	breast
14	chr4:54643200-54644000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:54643200-54644000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:54643200-54644000	Enhancers	NH-A	brain
17	chr4:54643200-54644600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:54643200-54644600	Enhancers	NHEK	skin
19	chr4:54643200-54644800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:54643200-54645200	Enhancers	Osteobl	bone
21	chr4:54643400-54643800	Enhancers	Liver	Liver
22	chr4:54643400-54643800	Enhancers	Ovary	ovary
23	chr4:54643400-54643800	Enhancers	A549	lung
24	chr4:54643400-54644000	Enhancers	HSMM	muscle
25	chr4:54643400-54644200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:54643400-54644600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:54643400-54644800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:54643400-54644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:54643400-54645200	Enhancers	Fetal Stomach	stomach
30	chr4:54643400-54645400	Enhancers	NHDF-Ad	bronchial
31	chr4:54643600-54644000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:54643600-54644000	Flanking Active TSS	HMEC	breast
33	chr4:54643600-54644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:54643600-54644600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:54643800-54644000	Flanking Active TSS	A549	lung
36	chr4:54643800-54647400	Weak transcription	Liver	Liver
37	chr4:54644000-54644600	Enhancers	HMEC	breast
38	chr4:54644000-54645400	Enhancers	A549	lung
39	chr4:54644000-54648000	Weak transcription	NH-A	brain
40	chr4:54644200-54647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:54644200-54648000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:54644600-54646200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:54644600-54646800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:54644600-54647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:54644800-54647000	Weak transcription	NHLF	lung
46	chr4:54644800-54652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:54645200-54646600	Weak transcription	Osteobl	bone
48	chr4:54645200-54647000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:54645200-54648000	Weak transcription	Fetal Stomach	stomach
50	chr4:54645400-54646400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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