Variant report

Variant	esv3353025
Chromosome Location	chr1:47412603-47418891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP4A11-1	chr1:47417449-47417530	NONHSAT003042
2	lnc-CYP4X1-1	chr1:47418127-47418416	NONHSAT003043
3	lnc-CYP4X1-1	chr1:47417509-47417697	NONHSAT003043
4	lnc-CYP4A11-1	chr1:47416428-47416708	NONHSAT003042

Extended variants
information (count: 265 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564304424	chr1:47412613-47412614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549050650	chr1:47412643-47412644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371187121	chr1:47412645-47412646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374355242	chr1:47412661-47412662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75199905	chr1:47412662-47412663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377737873	chr1:47412687-47412688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370137227	chr1:47412695-47412696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190205465	chr1:47412697-47412698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553645568	chr1:47412728-47412729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193300773	chr1:47412755-47412756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539227247	chr1:47412789-47412790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557321580	chr1:47412891-47412892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575902866	chr1:47412929-47412930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543574632	chr1:47413002-47413003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561741819	chr1:47413003-47413004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184319604	chr1:47413012-47413013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149267528	chr1:47413038-47413039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559607228	chr1:47413072-47413073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533030293	chr1:47413087-47413088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551650279	chr1:47413123-47413124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189600034	chr1:47413134-47413135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181127209	chr1:47413137-47413138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113061538	chr1:47413162-47413163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530451321	chr1:47413185-47413186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185321129	chr1:47413242-47413243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567388423	chr1:47413243-47413244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535028808	chr1:47413276-47413277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549825536	chr1:47413283-47413284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571615687	chr1:47413292-47413293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539006461	chr1:47413293-47413294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557615286	chr1:47413364-47413365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575934854	chr1:47413372-47413373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536812455	chr1:47413378-47413379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188571336	chr1:47413430-47413431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373850097	chr1:47413463-47413464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573737285	chr1:47413472-47413473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71050075	chr1:47413496-47413497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202064106	chr1:47413497-47413498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181368133	chr1:47413546-47413547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552739656	chr1:47413556-47413557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577555852	chr1:47413609-47413610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187152492	chr1:47413711-47413712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563214796	chr1:47413743-47413744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71050076	chr1:47413764-47413765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539184309	chr1:47413765-47413766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11211406	chr1:47413786-47413787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs191932697	chr1:47413801-47413802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116325857	chr1:47413804-47413805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57567347	chr1:47413810-47413811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72681962	chr1:47413815-47413816	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47407800-47412800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:47407800-47414200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:47408600-47412800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:47411800-47417600	Enhancers	Liver	Liver
5	chr1:47412400-47415200	Enhancers	Stomach Mucosa	stomach
6	chr1:47412800-47413000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:47412800-47413200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:47412800-47413200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr1:47412800-47413200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:47412800-47413200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:47412800-47413200	Enhancers	Fetal Intestine Large	intestine
12	chr1:47412800-47413200	Enhancers	Fetal Intestine Small	intestine
13	chr1:47412800-47413400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:47412800-47414000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:47412800-47414000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:47413000-47413400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:47413200-47414400	Weak transcription	Fetal Intestine Large	intestine
18	chr1:47413200-47414400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:47413600-47413800	Enhancers	Adipose Nuclei	Adipose
20	chr1:47413800-47424400	Weak transcription	Adipose Nuclei	Adipose
21	chr1:47414000-47415000	Enhancers	HepG2	liver
22	chr1:47414200-47416600	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:47414400-47415000	Enhancers	Esophagus	oesophagus
24	chr1:47414400-47415000	Enhancers	Fetal Intestine Large	intestine
25	chr1:47414400-47415000	Enhancers	Pancreas	Pancrea
26	chr1:47414400-47415800	Enhancers	Fetal Intestine Small	intestine
27	chr1:47415000-47415600	Weak transcription	Pancreas	Pancrea
28	chr1:47415000-47421000	Weak transcription	Fetal Intestine Large	intestine
29	chr1:47415200-47416400	Weak transcription	Stomach Mucosa	stomach
30	chr1:47415600-47415800	Enhancers	Pancreas	Pancrea
31	chr1:47415800-47417800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:47415800-47426800	Weak transcription	Pancreas	Pancrea
33	chr1:47416400-47416600	Enhancers	Stomach Mucosa	stomach
34	chr1:47416400-47417000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr1:47416600-47420600	Weak transcription	Stomach Mucosa	stomach
36	chr1:47417000-47418200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:47417600-47418000	Weak transcription	Liver	Liver
38	chr1:47417800-47422000	Enhancers	Fetal Intestine Small	intestine
39	chr1:47418000-47419800	Enhancers	Liver	Liver
40	chr1:47418200-47418400	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:47418400-47420600	Weak transcription	Duodenum Mucosa	Duodenum

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