Variant report

Variant	nsv1045762
Chromosome Location	chr14:41450583-41647283
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	chr14:41488666..41490358-chr14:41674438..41676053,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-1	chr14:41610037-41610251	NR_109758
2	lnc-LRFN5-1	chr14:41494725-41494994	NR_109757

Extended variants
information (count: 3635 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3635 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368305771	chr14:41450589-41450590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528558431	chr14:41450599-41450600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190504613	chr14:41450638-41450639	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34338825	chr14:41450678-41450679	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571734600	chr14:41450745-41450746	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539264375	chr14:41450779-41450780	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536343445	chr14:41450793-41450794	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370298798	chr14:41450827-41450828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557368777	chr14:41450839-41450840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569489637	chr14:41450840-41450841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536558759	chr14:41450859-41450860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554909265	chr14:41450881-41450882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114697953	chr14:41450888-41450889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12323632	chr14:41450921-41450922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540703080	chr14:41450925-41450926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181826552	chr14:41450933-41450934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8021649	chr14:41450943-41450944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545233890	chr14:41450972-41450973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140393220	chr14:41450997-41450998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55958723	chr14:41451054-41451055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539338591	chr14:41451061-41451062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542957732	chr14:41451106-41451107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561236167	chr14:41451135-41451136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528521156	chr14:41451148-41451149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547109583	chr14:41451155-41451156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571762493	chr14:41451164-41451165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1184418	chr14:41451193-41451194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551115913	chr14:41451225-41451226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569368272	chr14:41451248-41451249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536520668	chr14:41451279-41451280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554871029	chr14:41451288-41451289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566906925	chr14:41451290-41451291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534356742	chr14:41451314-41451315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186113619	chr14:41451323-41451324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149945814	chr14:41451403-41451404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577670613	chr14:41451412-41451413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145104434	chr14:41451413-41451414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149024916	chr14:41451443-41451444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557082481	chr14:41451444-41451445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540235631	chr14:41451452-41451453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371435723	chr14:41451454-41451455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575528642	chr14:41451480-41451481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188230474	chr14:41451483-41451484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559964374	chr14:41451563-41451564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114367373	chr14:41451648-41451649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372003337	chr14:41451651-41451652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74547919	chr14:41451654-41451655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201929066	chr14:41451656-41451657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573696397	chr14:41451669-41451670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115899484	chr14:41451686-41451687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41430000-41456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:41444600-41473600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:41444800-41452800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:41446200-41469400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:41446200-41473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:41450600-41450800	Active TSS	Fetal Heart	heart
7	chr14:41450800-41456400	Weak transcription	Fetal Heart	heart
8	chr14:41453000-41453200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:41456000-41457400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:41456400-41457200	Active TSS	Fetal Heart	heart
11	chr14:41457400-41461800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:41457400-41464600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:41458200-41464000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:41466600-41469800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:41469000-41486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:41469200-41469800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:41469400-41469600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:41469800-41470000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:41469800-41470600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:41469800-41473200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:41470000-41472800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:41473600-41474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:41474000-41476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:41485200-41485400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:41485400-41485600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:41485400-41485600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:41485400-41485800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr14:41485400-41486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:41485400-41486400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:41485400-41486600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:41485400-41486800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:41485600-41486000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:41485600-41486200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:41485800-41486200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:41486000-41486200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:41486600-41486800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:41506600-41507000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:41524800-41525200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:41526000-41526400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr14:41526200-41526600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:41526200-41527000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:41526400-41526800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr14:41530600-41530800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:41551600-41551800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:41551800-41557000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:41556800-41557000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:41557000-41557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:41557000-41558000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:41558000-41568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:41562200-41567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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