Variant report

Variant	nsv1048278
Chromosome Location	chr14:44441005-44467875
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	chr14:44464984-44465046	ENSG00000258969

Extended variants
information (count: 134 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547316201	chr14:44443801-44443802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533215469	chr14:44443816-44443817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182153746	chr14:44443820-44443821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559014705	chr14:44443931-44443932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543877483	chr14:44443976-44443977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563823960	chr14:44443984-44443985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10137617	chr14:44443996-44443997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545143863	chr14:44444047-44444048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546039836	chr14:44444100-44444101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563348928	chr14:44444109-44444110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530801679	chr14:44444114-44444115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186801820	chr14:44444126-44444127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112482777	chr14:44447815-44447816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183351162	chr14:44447874-44447875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544789174	chr14:44447910-44447911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188813715	chr14:44447921-44447922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs941944	chr14:44447955-44447956	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370540110	chr14:44448067-44448068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374176455	chr14:44448068-44448069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs33953097	chr14:44448069-44448070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs3035452	chr14:44448071-44448072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374568920	chr14:44448072-44448073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368575282	chr14:44448073-44448074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112211347	chr14:44448076-44448077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs8020694	chr14:44448083-44448084	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560788552	chr14:44448085-44448086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs150600221	chr14:44448104-44448105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs10150907	chr14:44448110-44448111	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374442475	chr14:44448158-44448159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552957451	chr14:44448200-44448201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564158920	chr14:44448255-44448256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114755468	chr14:44448318-44448319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs549552789	chr14:44448352-44448353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191764464	chr14:44448377-44448378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs368054899	chr14:44448424-44448425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs116577742	chr14:44448438-44448439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs373745690	chr14:44448457-44448458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547255542	chr14:44448476-44448477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560789457	chr14:44448480-44448481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs565649149	chr14:44448525-44448526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11629112	chr14:44448569-44448570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs184010340	chr14:44448577-44448578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs577258715	chr14:44448603-44448604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561027498	chr14:44448612-44448613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143410935	chr14:44448645-44448646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs4900652	chr14:44448646-44448647	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569957253	chr14:44448670-44448671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375300562	chr14:44448714-44448715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs544521218	chr14:44448790-44448791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs542456398	chr14:44448856-44448857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44443800-44444200	Enhancers	Fetal Brain Male	brain
2	chr14:44447800-44448000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:44448000-44449800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:44450400-44450800	Enhancers	Fetal Intestine Small	intestine
5	chr14:44450400-44451200	Enhancers	Liver	Liver
6	chr14:44450400-44451200	Enhancers	Fetal Intestine Large	intestine
7	chr14:44450600-44451200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr14:44450600-44451200	Enhancers	HepG2	liver
9	chr14:44450800-44451400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:44464800-44465000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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