Variant report

Variant	nsv901711
Chromosome Location	chr14:41601018-41658449
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: 632 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:632 , 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	rs561259418	chr14:41605292-41605293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146455467	chr14:41605339-41605340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184593977	chr14:41605343-41605344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560323633	chr14:41605359-41605360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4265715	chr14:41605366-41605367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552727848	chr14:41605393-41605394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564539518	chr14:41605395-41605396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370865231	chr14:41605396-41605397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188950327	chr14:41605399-41605400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181924520	chr14:41605455-41605456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550006452	chr14:41605488-41605489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569966666	chr14:41605545-41605546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4502127	chr14:41605556-41605557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs199878276	chr14:41605604-41605605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61984074	chr14:41605605-41605606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397852226	chr14:41605607-41605608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566132837	chr14:41605608-41605609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570890351	chr14:41605623-41605624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558246297	chr14:41605624-41605625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576563515	chr14:41605672-41605673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185394697	chr14:41605790-41605791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537921491	chr14:41605809-41605810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139892352	chr14:41605820-41605821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201501801	chr14:41605864-41605865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541766504	chr14:41605887-41605888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78581220	chr14:41605902-41605903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80219764	chr14:41605937-41605938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560369167	chr14:41605965-41605966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572490222	chr14:41605978-41605979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546256021	chr14:41606006-41606007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114226964	chr14:41606031-41606032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531888157	chr14:41606038-41606039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76569817	chr14:41606052-41606053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562153348	chr14:41606121-41606122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4128078	chr14:41606133-41606134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547795226	chr14:41606139-41606140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565997880	chr14:41606180-41606181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533430673	chr14:41606190-41606191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201201244	chr14:41606193-41606194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397853187	chr14:41606198-41606199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551784213	chr14:41606199-41606200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138448974	chr14:41606200-41606201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570107352	chr14:41606202-41606203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116782011	chr14:41606216-41606217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75689450	chr14:41606279-41606280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568162662	chr14:41606283-41606284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535606125	chr14:41606292-41606293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143256632	chr14:41606329-41606330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189611465	chr14:41606335-41606336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572400637	chr14:41606394-41606395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41605200-41606000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:41605400-41606200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:41605400-41606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:41605600-41606000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:41605600-41606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:41606000-41606200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:41611200-41613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:41611400-41613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:41613600-41613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:41613600-41614800	Enhancers	HMEC	breast
13	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:41614400-41616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:41615000-41615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:41615800-41616000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
21	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea
24	chr14:41640200-41640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:41640200-41640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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