Variant report

Variant	nsv527672
Chromosome Location	chr4:54626228-54637201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54631461..54634039-chr4:54637339..54639127,3	K562	blood:
2	chr4:54619811..54622044-chr4:54627656..54629607,2	K562	blood:

Extended variants
information (count: 399 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6842780	chr4:54626228-54626229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562605596	chr4:54626229-54626230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376065168	chr4:54626292-54626293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557044566	chr4:54626300-54626301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531653510	chr4:54626333-54626334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370044195	chr4:54626360-54626361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76970740	chr4:54626409-54626410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12506149	chr4:54626413-54626414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193262089	chr4:54626435-54626436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545156818	chr4:54626449-54626450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558717423	chr4:54626459-54626460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575578587	chr4:54626467-54626468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113475277	chr4:54626579-54626580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112464915	chr4:54626604-54626605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141704325	chr4:54626661-54626662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540743406	chr4:54626692-54626693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560340145	chr4:54626731-54626732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375775592	chr4:54626754-54626755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185413983	chr4:54626765-54626766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78763552	chr4:54626809-54626810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372473314	chr4:54626838-54626839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138350093	chr4:54626872-54626873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7655896	chr4:54626897-54626898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370434824	chr4:54626917-54626918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371039737	chr4:54626932-54626933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550565629	chr4:54626936-54626937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567272477	chr4:54626945-54626946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535824118	chr4:54626955-54626956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75466280	chr4:54626962-54626963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149639673	chr4:54626978-54626979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80010316	chr4:54627008-54627009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7686706	chr4:54627047-54627048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188359398	chr4:54627063-54627064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544520639	chr4:54627105-54627106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35441583	chr4:54627114-54627115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554937091	chr4:54627120-54627121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565420118	chr4:54627194-54627195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370648772	chr4:54627266-54627267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574779941	chr4:54627296-54627297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540225344	chr4:54627299-54627300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560532243	chr4:54627353-54627354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180963358	chr4:54627362-54627363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185243788	chr4:54627363-54627364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148295588	chr4:54627399-54627400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188844637	chr4:54627408-54627409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550852343	chr4:54627409-54627410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113860860	chr4:54627419-54627420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558376439	chr4:54627427-54627428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79300973	chr4:54627487-54627488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12646885	chr4:54627559-54627560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54626000-54629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:54627200-54629400	Weak transcription	NHLF	lung
3	chr4:54629000-54630400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:54629200-54630400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:54629200-54630400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:54629200-54631200	Enhancers	NHDF-Ad	bronchial
7	chr4:54629200-54631800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:54629200-54634400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:54629400-54629800	Enhancers	Fetal Kidney	kidney
10	chr4:54629400-54630400	Enhancers	NHLF	lung
11	chr4:54629400-54630400	Enhancers	Osteobl	bone
12	chr4:54629400-54631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:54629400-54631800	Enhancers	Ovary	ovary
14	chr4:54629400-54633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:54629600-54630800	Enhancers	Aorta	Aorta
16	chr4:54629600-54631000	Enhancers	Placenta	Placenta
17	chr4:54629600-54631600	Enhancers	HSMMtube	muscle
18	chr4:54629600-54631800	Enhancers	HSMM	muscle
19	chr4:54629600-54631800	Enhancers	NH-A	brain
20	chr4:54629600-54632000	Enhancers	Fetal Stomach	stomach
21	chr4:54629800-54630000	Enhancers	NHEK	skin
22	chr4:54629800-54630200	Weak transcription	Fetal Kidney	kidney
23	chr4:54629800-54630600	Enhancers	HMEC	breast
24	chr4:54629800-54630800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:54629800-54630800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:54630000-54630200	Enhancers	Fetal Lung	lung
27	chr4:54630000-54630600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:54630000-54631800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:54630200-54630800	Bivalent Enhancer	Fetal Lung	lung
30	chr4:54630200-54631000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:54630200-54631600	Enhancers	Colon Smooth Muscle	Colon
32	chr4:54630200-54632200	Enhancers	Fetal Kidney	kidney
33	chr4:54630400-54630600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:54630400-54630600	Flanking Active TSS	Osteobl	bone
35	chr4:54630400-54630800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:54630400-54630800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:54630400-54630800	Enhancers	Right Ventricle	heart
38	chr4:54630400-54630800	Enhancers	Spleen	Spleen
39	chr4:54630400-54630800	Flanking Active TSS	NHLF	lung
40	chr4:54630400-54631000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:54630400-54631000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:54630400-54631000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:54630400-54631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:54630400-54632000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:54630600-54630800	Enhancers	Osteobl	bone
46	chr4:54630600-54631000	Enhancers	Brain Germinal Matrix	brain
47	chr4:54630600-54631200	Enhancers	A549	lung
48	chr4:54630600-54632400	Weak transcription	HMEC	breast
49	chr4:54630800-54631000	Flanking Active TSS	Osteobl	bone
50	chr4:54630800-54631600	Enhancers	Fetal Lung	lung

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