Variant report

Variant	esv3428062
Chromosome Location	chr14:41131251-41158823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO33-4	chr14:41143707-41144144	l_973_chr14:41126919-41143836_ovary

Extended variants
information (count: 243 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556044856	chr14:41143742-41143743	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs567031109	chr14:41143768-41143769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs574453905	chr14:41143774-41143775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs116571743	chr14:41143863-41143864	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs554186685	chr14:41143867-41143868	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs537705621	chr14:41143913-41143914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs546312099	chr14:41143915-41143916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs141963082	chr14:41143948-41143949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576731589	chr14:41143953-41143954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs544082982	chr14:41143981-41143982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs185849870	chr14:41143985-41143986	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs115983030	chr14:41144101-41144102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs73300205	chr14:41144134-41144135	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541862294	chr14:41151622-41151623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76632165	chr14:41151624-41151625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553902554	chr14:41151632-41151633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79033813	chr14:41151640-41151641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530517643	chr14:41151642-41151643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555729311	chr14:41151649-41151650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574261610	chr14:41151665-41151666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186666118	chr14:41151736-41151737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553323713	chr14:41151788-41151789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571710549	chr14:41151803-41151804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545454725	chr14:41151921-41151922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79310547	chr14:41151957-41151958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576105831	chr14:41151983-41151984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190290166	chr14:41151993-41151994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182517265	chr14:41152001-41152002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116178726	chr14:41152121-41152122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61378390	chr14:41152158-41152159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397714878	chr14:41152170-41152171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199962471	chr14:41152171-41152172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529150177	chr14:41152181-41152182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187681371	chr14:41152242-41152243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192879837	chr14:41152249-41152250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541356790	chr14:41152265-41152266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115237555	chr14:41152269-41152270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80203900	chr14:41152270-41152271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185813297	chr14:41152280-41152281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117048574	chr14:41152296-41152297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77155797	chr14:41152302-41152303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570130472	chr14:41152304-41152305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76761040	chr14:41152305-41152306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563316974	chr14:41152312-41152313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142487248	chr14:41152331-41152332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188681439	chr14:41152418-41152419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534939956	chr14:41152441-41152442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373920315	chr14:41152446-41152447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193223776	chr14:41152463-41152464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571651161	chr14:41152470-41152471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41151600-41152000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:41151600-41152000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:41151800-41152200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:41152000-41156600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:41152200-41155000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:41155000-41155400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:41156200-41157800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:41156400-41156600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:41156600-41157000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:41156600-41157400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:41156600-41157400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:41157400-41158000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:41158000-41163200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:41158600-41164200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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