Variant report

Variant	nsv594679
Chromosome Location	chr4:74942571-74944694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74901988..74904846-chr4:74940874..74944131,3	K562	blood:
2	chr4:74934429..74938558-chr4:74940734..74946134,5	K562	blood:
3	chr4:74942157..74944634-chr4:74946654..74948863,2	K562	blood:
4	chr4:74944433..74947209-chr4:74963133..74965941,3	K562	blood:
5	chr4:74908077..74910007-chr4:74941278..74943027,2	K562	blood:
6	chr4:74921706..74923653-chr4:74943213..74945462,3	K562	blood:
7	chr4:74934690..74937299-chr4:74941932..74944462,2	K562	blood:

Variant related genes	Relation type
ENSG00000081041	chromatin interactions
ENSG00000163734	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577459105	chr4:74942580-74942581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374439366	chr4:74942586-74942587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527674419	chr4:74942601-74942602	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114962744	chr4:74942603-74942604	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546193091	chr4:74942643-74942644	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563044794	chr4:74942646-74942647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530271939	chr4:74942675-74942676	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548815398	chr4:74942690-74942691	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548781532	chr4:74942917-74942918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185603202	chr4:74942967-74942968	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527411032	chr4:74942989-74942990	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375074977	chr4:74943042-74943043	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369276905	chr4:74943067-74943068	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552183198	chr4:74943111-74943112	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570499868	chr4:74943124-74943125	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531501419	chr4:74943147-74943148	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76382855	chr4:74943189-74943190	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568281528	chr4:74943227-74943228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552486875	chr4:74943282-74943283	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567340670	chr4:74943316-74943317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569185633	chr4:74943328-74943329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553581175	chr4:74943381-74943382	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566614086	chr4:74943412-74943413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199498848	chr4:74943491-74943492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534068349	chr4:74943517-74943518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558525601	chr4:74943564-74943565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538456072	chr4:74943568-74943569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113173861	chr4:74943570-74943571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577123025	chr4:74943611-74943612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375898029	chr4:74943655-74943656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556780845	chr4:74943721-74943722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148754725	chr4:74943729-74943730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190531181	chr4:74943737-74943738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142304596	chr4:74943739-74943740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548460452	chr4:74943769-74943770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529206762	chr4:74943790-74943791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528310864	chr4:74943806-74943807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560698850	chr4:74943829-74943830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527369399	chr4:74943843-74943844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181815501	chr4:74943864-74943865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547084507	chr4:74943895-74943896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564027944	chr4:74943897-74943898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115832564	chr4:74943923-74943924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549535117	chr4:74943957-74943958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146487985	chr4:74943972-74943973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368898657	chr4:74943991-74943992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186981324	chr4:74944004-74944005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559076560	chr4:74944020-74944021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565586427	chr4:74944021-74944022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190522606	chr4:74944049-74944050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74939400-74944800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:74939600-74944800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:74940000-74944400	Weak transcription	K562	blood
4	chr4:74940200-74944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:74942600-74943400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:74943800-74947800	Weak transcription	Aorta	Aorta
7	chr4:74944200-74945000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr4:74944200-74952600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:74944400-74945200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:74944400-74945200	Enhancers	K562	blood
11	chr4:74944400-74947400	Enhancers	Primary neutrophils fromperipheralblood	blood

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