Variant report

Variant	esv2756398
Chromosome Location	chr14:41472098-41488833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:41488666..41490358-chr14:41674438..41676053,2	K562	blood:

Extended variants
information (count: 579 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1779602	chr14:41472098-41472099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1669598	chr14:41472143-41472144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548702836	chr14:41472158-41472159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188441693	chr14:41472166-41472167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10654526	chr14:41472170-41472171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72335879	chr14:41472171-41472172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1669597	chr14:41472182-41472183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150148766	chr14:41472186-41472187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571493663	chr14:41472358-41472359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528775224	chr14:41472404-41472405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1669596	chr14:41472425-41472426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10657244	chr14:41472468-41472469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs66655919	chr14:41472469-41472470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143626525	chr14:41472476-41472477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144068724	chr14:41472478-41472479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7142543	chr14:41472485-41472486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71102142	chr14:41472491-41472492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569154750	chr14:41472503-41472504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536608206	chr14:41472513-41472514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554560070	chr14:41472545-41472546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566599750	chr14:41472552-41472553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386776747	chr14:41472581-41472582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76878991	chr14:41472583-41472584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150711139	chr14:41472665-41472666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149335825	chr14:41472764-41472765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544578172	chr14:41472784-41472785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568980004	chr14:41472805-41472806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370377523	chr14:41472861-41472862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12881356	chr14:41472862-41472863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551344515	chr14:41472876-41472877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147010359	chr14:41472918-41472919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34238285	chr14:41472942-41472943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398077716	chr14:41472950-41472951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542608292	chr14:41472985-41472986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72673773	chr14:41472993-41472994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528170752	chr14:41473000-41473001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567812202	chr14:41473026-41473027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540363388	chr14:41473051-41473052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565064078	chr14:41473052-41473053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532381963	chr14:41473062-41473063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115739846	chr14:41473212-41473213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569099215	chr14:41473252-41473253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536943842	chr14:41473259-41473260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370601527	chr14:41473279-41473280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137863639	chr14:41473308-41473309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192636736	chr14:41473323-41473324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1779603	chr14:41473413-41473414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534017399	chr14:41473438-41473439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558671499	chr14:41473462-41473463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367884315	chr14:41473469-41473470	Weak transcription	n/a	n/a	Overlapped CNVs	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
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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41444600-41473600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41446200-41473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:41469000-41486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:41469800-41473200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:41470000-41472800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:41473600-41474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:41474000-41476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:41485200-41485400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:41485400-41485600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:41485400-41485600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:41485400-41485800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr14:41485400-41486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:41485400-41486400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:41485400-41486600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr14:41485400-41486800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:41485600-41486000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr14:41485600-41486200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:41485800-41486200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:41486000-41486200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:41486600-41486800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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