Variant report

Variant	esv2574248
Chromosome Location	chr4:74746585-74748222
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	chr4:74746733..74749613-chr4:74751019..74753569,2	K562	blood:
2	chr4:74746413..74748003-chr4:74754360..74756735,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144732027	chr4:74746590-74746591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565553853	chr4:74746632-74746633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148673177	chr4:74746644-74746645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573712080	chr4:74746702-74746703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192552413	chr4:74746732-74746733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144216305	chr4:74746735-74746736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554279173	chr4:74746779-74746780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184368399	chr4:74746877-74746878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs118043397	chr4:74746900-74746901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79811099	chr4:74746910-74746911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546360144	chr4:74746918-74746919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16850118	chr4:74746940-74746941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4694644	chr4:74746959-74746960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141707571	chr4:74746968-74746969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562422015	chr4:74746971-74746972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565125369	chr4:74746984-74746985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201682464	chr4:74746992-74746993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529441280	chr4:74747002-74747003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547566085	chr4:74747013-74747014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73830319	chr4:74747060-74747061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532851050	chr4:74747062-74747063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551106689	chr4:74747072-74747073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374198806	chr4:74747092-74747093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569503196	chr4:74747095-74747096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537058024	chr4:74747236-74747237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577200096	chr4:74747260-74747261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567573128	chr4:74747270-74747271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534952331	chr4:74747321-74747322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528979045	chr4:74747322-74747323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553195589	chr4:74747377-74747378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146279677	chr4:74747406-74747407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374225867	chr4:74747426-74747427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3111698	chr4:74747433-74747434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568731703	chr4:74747487-74747488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562764703	chr4:74747525-74747526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558243460	chr4:74747551-74747552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139359969	chr4:74747564-74747565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543824338	chr4:74747607-74747608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555508895	chr4:74747608-74747609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376958294	chr4:74747628-74747629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190525197	chr4:74747637-74747638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537862392	chr4:74747659-74747660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556687925	chr4:74747675-74747676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111303275	chr4:74747705-74747706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531204070	chr4:74747722-74747723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150519768	chr4:74747762-74747763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544737491	chr4:74747788-74747789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192568930	chr4:74747793-74747794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374820018	chr4:74747794-74747795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574237019	chr4:74747812-74747813	Enhancers Weak transcription	n/a	n/a	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74736800-74749000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74741800-74747800	Weak transcription	NHDF-Ad	bronchial
3	chr4:74742000-74748600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:74746400-74746600	Enhancers	NHEK	skin
5	chr4:74746400-74746800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr4:74746400-74747000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:74746600-74746800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:74746800-74748800	Weak transcription	NHEK	skin
9	chr4:74747000-74748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:74747000-74749000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:74747600-74752200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:74747800-74749600	Enhancers	NHDF-Ad	bronchial
13	chr4:74748200-74749800	Enhancers	Dnd41	blood
14	chr4:74748200-74752000	Enhancers	Muscle Satellite Cultured Cells	--

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