Variant report

Variant	esv3361965
Chromosome Location	chr14:41596251-41628384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 748 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:748 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183589340	chr14:41596268-41596269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117376120	chr14:41596284-41596285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528347772	chr14:41596387-41596388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79145794	chr14:41596393-41596394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112408650	chr14:41596401-41596402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564414282	chr14:41596466-41596467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541973271	chr14:41596467-41596468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531547692	chr14:41596475-41596476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543736814	chr14:41596484-41596485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12886510	chr14:41596555-41596556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148138063	chr14:41596556-41596557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547928049	chr14:41596561-41596562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114292763	chr14:41596594-41596595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35809546	chr14:41596654-41596655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533576668	chr14:41596685-41596686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551644048	chr14:41596727-41596728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143610093	chr14:41596794-41596795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374318865	chr14:41596802-41596803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188227741	chr14:41596836-41596837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537399522	chr14:41596864-41596865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377270051	chr14:41596923-41596924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111803109	chr14:41596925-41596926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386381205	chr14:41596926-41596927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386381206	chr14:41596937-41596938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200084644	chr14:41596939-41596940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369625945	chr14:41596940-41596941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200849969	chr14:41596941-41596942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538960934	chr14:41596971-41596972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549246886	chr14:41596983-41596984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544823421	chr14:41596999-41597000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535053147	chr14:41597016-41597017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553833376	chr14:41597026-41597027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572003339	chr14:41597031-41597032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539510064	chr14:41597042-41597043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34546694	chr14:41597078-41597079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533672940	chr14:41597123-41597124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543774908	chr14:41597139-41597140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372398284	chr14:41597182-41597183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574105973	chr14:41597198-41597199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73298999	chr14:41597253-41597254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559808952	chr14:41597257-41597258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193273114	chr14:41597315-41597316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112765776	chr14:41597316-41597317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551852320	chr14:41597325-41597326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563761574	chr14:41597348-41597349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543321306	chr14:41597385-41597386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530972405	chr14:41597430-41597431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143097128	chr14:41597437-41597438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11157198	chr14:41597494-41597495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567572564	chr14:41597499-41597500	Weak transcription	n/a	n/a	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41596000-41599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:41605200-41606000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:41605400-41606200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:41605400-41606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:41605600-41606000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:41605600-41606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:41606000-41606200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:41611200-41613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:41611400-41613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:41613600-41613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:41613600-41614800	Enhancers	HMEC	breast
14	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:41614400-41616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:41615000-41615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:41615800-41616000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
22	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links