Variant report

Variant	esv2761834
Chromosome Location	chr14:44501117-44530455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-2	chr14:44518586-44518710	ENSG00000258969

Extended variants
information (count: 157 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1955975	chr14:44501117-44501118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552086724	chr14:44501124-44501125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570328111	chr14:44501133-44501134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1569904	chr14:44501161-44501162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548960156	chr14:44501162-44501163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527917698	chr14:44501184-44501185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139724219	chr14:44501191-44501192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534418297	chr14:44501202-44501203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553061358	chr14:44501224-44501225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184900119	chr14:44501233-44501234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371231230	chr14:44501238-44501239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142245699	chr14:44501240-44501241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5808252	chr14:44501241-44501242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570595362	chr14:44501262-44501263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397852974	chr14:44501263-44501264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538414344	chr14:44501288-44501289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368931885	chr14:44501392-44501393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10484236	chr14:44507603-44507604	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372081378	chr14:44507616-44507617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562175932	chr14:44507638-44507639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10484235	chr14:44507655-44507656	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565927129	chr14:44507729-44507730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs34660946	chr14:44507732-44507733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559997720	chr14:44507734-44507735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185346776	chr14:44507748-44507749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548427752	chr14:44507752-44507753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552148357	chr14:44507766-44507767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376916519	chr14:44507815-44507816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs138369617	chr14:44507858-44507859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568426080	chr14:44507870-44507871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148836835	chr14:44507935-44507936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190212942	chr14:44507952-44507953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs145891580	chr14:44508008-44508009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs72680782	chr14:44508020-44508021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534428453	chr14:44508046-44508047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546382299	chr14:44508085-44508086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs57519376	chr14:44508100-44508101	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62012604	chr14:44508114-44508115	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553079959	chr14:44508127-44508128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185225004	chr14:44508152-44508153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1955968	chr14:44508185-44508186	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555478338	chr14:44508216-44508217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574035811	chr14:44508242-44508243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541579569	chr14:44508249-44508250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569403297	chr14:44508250-44508251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553600215	chr14:44508258-44508259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111498217	chr14:44508273-44508274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs142905929	chr14:44508301-44508302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs563981488	chr14:44508311-44508312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541034955	chr14:44508342-44508343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44500200-44501400	Enhancers	Brain Germinal Matrix	brain
2	chr14:44507600-44509200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:44508400-44508600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:44508600-44509200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:44510000-44510200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:44514000-44514400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:44526000-44526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:44526600-44527600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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