Variant report

Variant	esv18263
Chromosome Location	chr4:76954997-76955641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76911559..76914179-chr4:76954597..76956782,2	MCF-7	breast:
2	chr4:76884899..76887580-chr4:76953090..76955387,2	K562	blood:
3	chr4:76946217..76947878-chr4:76952883..76955086,2	K562	blood:

Variant related genes	Relation type
ENSG00000198301	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567440430	chr4:76954997-76954998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4583787	chr4:76955069-76955070	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs533988201	chr4:76955085-76955086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546741826	chr4:76955103-76955104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4356932	chr4:76955194-76955195	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs149870657	chr4:76955195-76955196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4619915	chr4:76955201-76955202	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs576689991	chr4:76955208-76955209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537731320	chr4:76955217-76955218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7436646	chr4:76955229-76955230	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs573916617	chr4:76955247-76955248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9994667	chr4:76955248-76955249	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs553057996	chr4:76955322-76955323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10003240	chr4:76955330-76955331	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs373367097	chr4:76955336-76955337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75654414	chr4:76955338-76955339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10025102	chr4:76955358-76955359	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs1140835	chr4:76955372-76955373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34355924	chr4:76955387-76955388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112882465	chr4:76955400-76955401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10017431	chr4:76955406-76955407	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs560998601	chr4:76955420-76955421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs67413521	chr4:76955421-76955422	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546778685	chr4:76955463-76955464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10003382	chr4:76955473-76955474	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs532244359	chr4:76955496-76955497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144900973	chr4:76955502-76955503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568848530	chr4:76955504-76955505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13130018	chr4:76955519-76955520	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs374461004	chr4:76955536-76955537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565809262	chr4:76955575-76955576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556025947	chr4:76955584-76955585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs13130221	chr4:76955617-76955618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76950200-76957000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:76950800-76956200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:76955600-76956800	Enhancers	GM12878-XiMat	blood

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