Variant report

Variant	esv3430563
Chromosome Location	chr14:40124250-40140803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:40113782..40115697-chr14:40124325..40126766,2	MCF-7	breast:
2	chr14:40132521..40135651-chr14:40139926..40142042,3	MCF-7	breast:
3	chr14:40132521..40135651-chr14:40139926..40142042,3	MCF-7	breast:

Extended variants
information (count: 327 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:327 , 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	rs573373900	chr14:40124330-40124331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs541052170	chr14:40124354-40124355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs142252885	chr14:40124391-40124392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539753019	chr14:40124417-40124418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs186283902	chr14:40124420-40124421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs74049107	chr14:40124445-40124446	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34564730	chr14:40124467-40124468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs562023250	chr14:40124468-40124469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs17109545	chr14:40124487-40124488	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146233851	chr14:40124490-40124491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138655102	chr14:40124491-40124492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs17109549	chr14:40124504-40124505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533180282	chr14:40124535-40124536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs568024247	chr14:40124548-40124549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551157694	chr14:40124579-40124580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs537154877	chr14:40124581-40124582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112944268	chr14:40124594-40124595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550650627	chr14:40124612-40124613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566270063	chr14:40124614-40124615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188989011	chr14:40124729-40124730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs141151578	chr14:40124782-40124783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7147824	chr14:40124795-40124796	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535299524	chr14:40124810-40124811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs150312706	chr14:40124821-40124822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs137990514	chr14:40124831-40124832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543556617	chr14:40124834-40124835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73283166	chr14:40124908-40124909	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149606663	chr14:40124963-40124964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs58128047	chr14:40124969-40124970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs146114413	chr14:40125022-40125023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs528389298	chr14:40125058-40125059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs141229905	chr14:40125065-40125066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548462806	chr14:40125073-40125074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10135297	chr14:40125087-40125088	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113607952	chr14:40125090-40125091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142234479	chr14:40125104-40125105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550738011	chr14:40125109-40125110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs146407961	chr14:40125136-40125137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570441117	chr14:40125142-40125143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539248799	chr14:40125149-40125150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373889246	chr14:40125180-40125181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552519230	chr14:40125215-40125216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373145273	chr14:40125227-40125228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148496315	chr14:40125242-40125243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142809357	chr14:40125246-40125247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554838207	chr14:40125247-40125248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574531785	chr14:40125257-40125258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537032248	chr14:40125263-40125264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs10135329	chr14:40125286-40125287	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182529147	chr14:40125287-40125288	ZNF genes & repeats	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
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40124200-40125400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr14:40126200-40126400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr14:40133200-40134000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:40133600-40134600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:40133600-40134800	Enhancers	GM12878-XiMat	blood
6	chr14:40133800-40134200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:40133800-40134800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:40134000-40134800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:40134200-40134600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:40134200-40142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:40134400-40134800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:40134400-40134800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:40134600-40135000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:40134600-40141800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:40134800-40137800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:40134800-40140600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:40135600-40135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:40135800-40143000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:40136800-40139000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:40137600-40138400	Enhancers	Dnd41	blood
21	chr14:40137600-40138600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr14:40137600-40138800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:40137600-40139000	Enhancers	Primary T cells from cord blood	blood
24	chr14:40137600-40139000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:40137600-40139400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:40137800-40138200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:40138000-40138800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr14:40138200-40141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:40138800-40139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:40139000-40140800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:40139400-40140600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:40139800-40140000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr14:40140600-40140800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr14:40140600-40140800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr14:40140800-40141600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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