Variant report

Variant	esv3448476
Chromosome Location	chr4:69790113-69792511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr4:69792046-69792453	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000198277	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529226991	chr4:69790117-69790118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188237494	chr4:69790122-69790123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191910302	chr4:69790204-69790205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570015474	chr4:69790243-69790244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372305440	chr4:69790255-69790256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367921149	chr4:69790280-69790281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531572992	chr4:69790282-69790283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551583120	chr4:69790317-69790318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551924250	chr4:69790320-69790321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558973742	chr4:69790333-69790334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17147006	chr4:69790343-69790344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11736796	chr4:69790366-69790367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547332523	chr4:69790373-69790374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567255785	chr4:69790394-69790395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533096052	chr4:69790420-69790421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535866289	chr4:69790431-69790432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556263849	chr4:69790480-69790481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11946857	chr4:69790483-69790484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192607927	chr4:69790499-69790500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538076525	chr4:69790530-69790531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557945897	chr4:69790568-69790569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375731670	chr4:69790582-69790583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34220506	chr4:69790594-69790595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373788854	chr4:69790596-69790597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569714635	chr4:69790625-69790626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116446381	chr4:69790656-69790657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540925330	chr4:69790694-69790695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554167424	chr4:69790695-69790696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12650284	chr4:69790761-69790762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114267108	chr4:69790779-69790780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563002265	chr4:69790811-69790812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535392090	chr4:69790847-69790848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114621758	chr4:69790854-69790855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545480906	chr4:69790875-69790876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565081765	chr4:69790876-69790877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373708537	chr4:69790934-69790935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527446885	chr4:69790947-69790948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111588073	chr4:69790983-69790984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547714436	chr4:69791012-69791013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377675663	chr4:69791021-69791022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28398306	chr4:69791084-69791085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183645497	chr4:69791151-69791152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574961925	chr4:69791155-69791156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377753506	chr4:69791173-69791174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369522148	chr4:69791174-69791175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373759652	chr4:69791175-69791176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189240183	chr4:69791207-69791208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114868231	chr4:69791240-69791241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1020768	chr4:69791299-69791300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1020767	chr4:69791344-69791345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
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
Lung cancer	18438408	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
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
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
Acute myeloid leukemia	21251322	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
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69789800-69790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:69790000-69790600	Enhancers	HepG2	liver
3	chr4:69790400-69790600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:69790600-69792800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:69790600-69793800	Weak transcription	HepG2	liver
6	chr4:69791800-69794800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:69792000-69795000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:69792400-69812600	Weak transcription	Rectal Mucosa Donor 29	rectum

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