Variant report

Variant	esv2760822
Chromosome Location	chr4:21450944-21467397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR125-6	chr4:21454062-21463909	ucscGeneNc_uc003gqj_1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7978	chr4:21466361-21466381	MIMAT0031181

Extended variants
information (count: 609 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73249587	chr4:21451030-21451031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79769507	chr4:21451076-21451077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115505939	chr4:21451091-21451092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146543890	chr4:21451106-21451107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549221715	chr4:21451109-21451110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12643143	chr4:21451114-21451115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528387437	chr4:21451117-21451118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546916000	chr4:21451188-21451189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192851000	chr4:21451199-21451200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539853545	chr4:21451205-21451206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200001446	chr4:21451259-21451260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372881464	chr4:21451260-21451261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28405605	chr4:21451261-21451262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34289367	chr4:21451312-21451313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537098292	chr4:21451317-21451318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73249588	chr4:21451375-21451376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28669010	chr4:21451377-21451378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183585980	chr4:21451387-21451388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371073682	chr4:21451424-21451425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553655831	chr4:21451425-21451426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562874230	chr4:21451426-21451427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578177075	chr4:21451508-21451509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114526126	chr4:21451589-21451590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563246956	chr4:21451599-21451600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35784336	chr4:21451622-21451623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575415065	chr4:21451623-21451624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187493718	chr4:21451669-21451670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192467694	chr4:21451716-21451717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560427403	chr4:21451728-21451729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528337161	chr4:21451743-21451744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184708499	chr4:21451783-21451784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565198342	chr4:21451794-21451795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532276855	chr4:21451811-21451812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62295494	chr4:21451926-21451927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111295766	chr4:21451940-21451941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569672740	chr4:21451943-21451944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2199287	chr4:21451964-21451965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs549113669	chr4:21451979-21451980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114131864	chr4:21452059-21452060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535257018	chr4:21452072-21452073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111602033	chr4:21452080-21452081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578213828	chr4:21452101-21452102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187977808	chr4:21452175-21452176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1476279	chr4:21452250-21452251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575353256	chr4:21452263-21452264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372729960	chr4:21452383-21452384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116983715	chr4:21452415-21452416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192742592	chr4:21452430-21452431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572814923	chr4:21452432-21452433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16871085	chr4:21452437-21452438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21448400-21465600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21449800-21454000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:21450800-21455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:21451600-21455200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:21452200-21453600	Enhancers	NH-A	brain
6	chr4:21452200-21455200	Enhancers	HMEC	breast
7	chr4:21452200-21456200	Enhancers	NHEK	skin
8	chr4:21452400-21453400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:21452400-21456200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:21452600-21453000	Enhancers	HSMMtube	muscle
11	chr4:21452600-21453400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:21453400-21455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:21454000-21455800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:21455200-21455400	Bivalent Enhancer	HMEC	breast
15	chr4:21455200-21455600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:21455800-21456000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:21456600-21456800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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