Variant report

Variant	nsv1255
Chromosome Location	chr14:43507697-43545773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120473764..120474359-chr14:43517502..43518175,2	HCT-116	colon:
2	chr14:43508464..43512451-chr14:43512636..43516072,3	MCF-7	breast:
3	chr14:43508464..43512451-chr14:43512636..43516072,3	MCF-7	breast:

Extended variants
information (count: 303 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555784411	chr14:43507713-43507714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140602719	chr14:43507774-43507775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201998962	chr14:43507777-43507778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57855712	chr14:43507778-43507779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574317133	chr14:43507858-43507859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111369901	chr14:43507861-43507862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58312161	chr14:43507865-43507866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141265992	chr14:43507867-43507868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545107711	chr14:43507888-43507889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57814707	chr14:43507894-43507895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530806556	chr14:43507940-43507941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187162492	chr14:43507945-43507946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368809271	chr14:43507978-43507979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561817760	chr14:43507983-43507984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529213843	chr14:43507990-43507991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201007482	chr14:43507992-43507993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60339298	chr14:43507993-43507994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs397792375	chr14:43508005-43508006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565894373	chr14:43508021-43508022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150191027	chr14:43508031-43508032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189534915	chr14:43508037-43508038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568938794	chr14:43508045-43508046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569781700	chr14:43508110-43508111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531923909	chr14:43508111-43508112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36077662	chr14:43508130-43508131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386776915	chr14:43508156-43508157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79012515	chr14:43508157-43508158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181533726	chr14:43508167-43508168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185864391	chr14:43508198-43508199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76731500	chr14:43508269-43508270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577819684	chr14:43508271-43508272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545242712	chr14:43508275-43508276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34773045	chr14:43508290-43508291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376156564	chr14:43508303-43508304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566599131	chr14:43508307-43508308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73332451	chr14:43508310-43508311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534190908	chr14:43508360-43508361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561354758	chr14:43508370-43508371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111469671	chr14:43508371-43508372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189733055	chr14:43508385-43508386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559545898	chr14:43508387-43508388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73332453	chr14:43508399-43508400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551596120	chr14:43508403-43508404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569637980	chr14:43508412-43508413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182344700	chr14:43508477-43508478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186299815	chr14:43508521-43508522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567270243	chr14:43508569-43508570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74385786	chr14:43508599-43508600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553247879	chr14:43508609-43508610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17113777	chr14:43508665-43508666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43506000-43511200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:43506200-43511000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:43511000-43511400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr14:43511000-43512600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:43511200-43511400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:43511200-43511400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr14:43511200-43511400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:43511400-43511800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:43511400-43511800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr14:43511400-43512000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:43511400-43512000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr14:43511800-43512400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:43511800-43512400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:43512000-43512200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr14:43512000-43512400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr14:43528600-43528800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:43531000-43531400	Enhancers	A549	lung
18	chr14:43531400-43531600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:43531400-43532000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:43531400-43532000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr14:43531400-43532000	Active TSS	A549	lung
22	chr14:43531600-43532000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr14:43531600-43532000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr14:43531600-43532000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr14:43531600-43532000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:43531600-43532000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:43531600-43532000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:43531600-43532000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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