Variant report

Variant	esv2753904
Chromosome Location	chr14:41477679-41509924
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	chr14:41494725-41494994	NR_109757

Extended variants
information (count: 354 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1612454	chr14:41477679-41477680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532892553	chr14:41477706-41477707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1612328	chr14:41477727-41477728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1669584	chr14:41477769-41477770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149908111	chr14:41477781-41477782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530643163	chr14:41477786-41477787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201597803	chr14:41477798-41477799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549174608	chr14:41477814-41477815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371587074	chr14:41477817-41477818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543893696	chr14:41477829-41477830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79866932	chr14:41477851-41477852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187546571	chr14:41477882-41477883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs41488650	chr14:41477904-41477905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190892203	chr14:41477914-41477915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571456289	chr14:41477928-41477929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538038574	chr14:41477934-41477935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59066404	chr14:41477957-41477958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555185015	chr14:41477967-41477968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563772700	chr14:41478036-41478037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183091769	chr14:41478041-41478042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1779612	chr14:41478071-41478072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1779613	chr14:41478105-41478106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1779614	chr14:41478129-41478130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138466861	chr14:41478147-41478148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559163329	chr14:41478214-41478215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149258816	chr14:41478241-41478242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544959087	chr14:41478257-41478258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77953326	chr14:41478296-41478297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565947471	chr14:41478320-41478321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530603848	chr14:41478336-41478337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542782193	chr14:41478354-41478355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561063064	chr14:41478422-41478423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528757627	chr14:41478437-41478438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1669583	chr14:41478461-41478462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144493644	chr14:41478495-41478496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148150697	chr14:41478498-41478499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188104515	chr14:41478505-41478506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550930225	chr14:41478565-41478566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568945414	chr14:41478575-41478576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192267311	chr14:41478596-41478597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184324457	chr14:41478598-41478599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1669582	chr14:41478666-41478667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187869819	chr14:41478696-41478697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142938717	chr14:41478702-41478703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569428301	chr14:41478771-41478772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544610780	chr14:41478779-41478780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1779615	chr14:41478818-41478819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575359578	chr14:41478832-41478833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542651133	chr14:41478913-41478914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1669581	chr14:41478952-41478953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41469000-41486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:41485200-41485400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:41485400-41485600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:41485400-41485600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:41485400-41485800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:41485400-41486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:41485400-41486400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:41485400-41486600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:41485400-41486800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:41485600-41486000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:41485600-41486200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:41485800-41486200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr14:41486000-41486200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:41486600-41486800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:41506600-41507000	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links