Variant report

Variant	nsv564419
Chromosome Location	chr14:40026898-40090236
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	chr14:39901555..39903705-chr14:40028959..40031406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165355	chromatin interactions

Extended variants
information (count: 1213 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1213 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542934424	chr14:40028989-40028990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575581271	chr14:40029036-40029037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562441720	chr14:40029061-40029062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531249242	chr14:40029074-40029075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368954194	chr14:40029092-40029093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545786141	chr14:40029135-40029136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185633991	chr14:40029174-40029175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564645543	chr14:40029230-40029231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527352528	chr14:40029239-40029240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs36016749	chr14:40029246-40029247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143755363	chr14:40029282-40029283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190746108	chr14:40029296-40029297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529445581	chr14:40029330-40029331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71407793	chr14:40029332-40029333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558007681	chr14:40029385-40029386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372424471	chr14:40029493-40029494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372511280	chr14:40029519-40029520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs398118090	chr14:40029520-40029521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs398057016	chr14:40029535-40029536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569530447	chr14:40029538-40029539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374784828	chr14:40029556-40029557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147226849	chr14:40029604-40029605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571662535	chr14:40029658-40029659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573092683	chr14:40029659-40029660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181512463	chr14:40029676-40029677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553952052	chr14:40029687-40029688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187460462	chr14:40029697-40029698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540470204	chr14:40029742-40029743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369703762	chr14:40029747-40029748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542449832	chr14:40029767-40029768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373474043	chr14:40029776-40029777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575885421	chr14:40029791-40029792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12882357	chr14:40029795-40029796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544629032	chr14:40029835-40029836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564507503	chr14:40029924-40029925	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527277975	chr14:40029957-40029958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541150211	chr14:40030014-40030015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs57383614	chr14:40030034-40030035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs397942911	chr14:40030038-40030039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs28514704	chr14:40030039-40030040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28497879	chr14:40030040-40030041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376075881	chr14:40030050-40030051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140279021	chr14:40030115-40030116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111402440	chr14:40030124-40030125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149255082	chr14:40030158-40030159	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549549755	chr14:40030198-40030199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191821150	chr14:40030241-40030242	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182869580	chr14:40030306-40030307	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552086979	chr14:40030326-40030327	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144492690	chr14:40030345-40030346	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Cancer	20164919	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40030200-40030400	ZNF genes & repeats	Pancreas	Pancrea
2	chr14:40030400-40030800	Weak transcription	Pancreas	Pancrea
3	chr14:40038200-40038400	Enhancers	Duodenum Mucosa	Duodenum
4	chr14:40038200-40039400	Enhancers	Fetal Heart	heart
5	chr14:40038400-40038800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:40038600-40039400	Enhancers	Pancreas	Pancrea
7	chr14:40045800-40046000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:40045800-40046000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr14:40045800-40046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:40045800-40046600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:40045800-40046600	Enhancers	NH-A	brain
12	chr14:40046000-40048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:40046000-40049400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:40048600-40048800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:40049400-40051800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr14:40049800-40051800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:40050000-40050400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:40050000-40050600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:40050200-40050600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:40051200-40051400	Active TSS	Primary T cells from cord blood	blood
21	chr14:40051400-40051600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr14:40051400-40051800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:40051600-40052000	Enhancers	Primary T cells from cord blood	blood
24	chr14:40051600-40052800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:40051800-40053800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:40052000-40052400	Weak transcription	Primary T cells from cord blood	blood
27	chr14:40052400-40052800	Enhancers	Primary T cells from cord blood	blood
28	chr14:40059000-40059200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:40059000-40060000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:40059200-40059400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:40059200-40059600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr14:40059200-40059800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr14:40059200-40059800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr14:40059200-40059800	Enhancers	HepG2	liver
35	chr14:40059400-40061600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:40059600-40060000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr14:40060000-40061400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:40061200-40061800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:40061200-40061800	Enhancers	Fetal Muscle Leg	muscle
40	chr14:40061200-40062000	Enhancers	Brain Germinal Matrix	brain
41	chr14:40061400-40062000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:40061600-40061800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:40061600-40062800	Enhancers	Rectal Smooth Muscle	rectum
44	chr14:40071200-40071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr14:40071400-40072600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:40072400-40072600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:40072400-40078200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:40072600-40073000	Enhancers	Primary T cells from cord blood	blood
49	chr14:40072600-40073000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:40072600-40074000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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