Variant report

Variant	nsv832775
Chromosome Location	chr14:40038735-40193559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40132521..40135651-chr14:40139926..40142042,3	MCF-7	breast:
2	chr14:40108419..40110081-chr14:40116251..40119239,2	MCF-7	breast:
3	chr14:40108419..40110081-chr14:40116251..40119239,2	MCF-7	breast:
4	chr14:40151450..40153481-chr14:40156215..40158887,2	MCF-7	breast:
5	chr14:40182487..40184549-chr14:40186231..40188606,2	MCF-7	breast:
6	chr14:40113782..40115697-chr14:40124325..40126766,2	MCF-7	breast:
7	chr14:40151450..40153481-chr14:40156215..40158887,2	MCF-7	breast:
8	chr10:87024387..87025297-chr14:40117125..40117894,2	MCF-7	breast:
9	chr14:40113782..40115697-chr14:40124325..40126766,2	MCF-7	breast:
10	chr14:40182487..40184549-chr14:40186231..40188606,2	MCF-7	breast:
11	chr14:40132521..40135651-chr14:40139926..40142042,3	MCF-7	breast:

No data

Extended variants
information (count: 3052 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3052 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560984766	chr14:40038838-40038839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190986667	chr14:40038852-40038853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543590584	chr14:40038858-40038859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369336160	chr14:40038879-40038880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58877662	chr14:40038897-40038898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147890201	chr14:40038914-40038915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183132857	chr14:40038942-40038943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559402838	chr14:40039027-40039028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370655864	chr14:40039055-40039056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531670578	chr14:40039084-40039085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141654268	chr14:40039110-40039111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58307559	chr14:40039142-40039143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144373854	chr14:40039201-40039202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537034992	chr14:40039261-40039262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574299414	chr14:40039275-40039276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1950326	chr14:40039316-40039317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1950327	chr14:40039342-40039343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs538883388	chr14:40039349-40039350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538416450	chr14:40039357-40039358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537163876	chr14:40039365-40039366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559075821	chr14:40039374-40039375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572292199	chr14:40039391-40039392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543450903	chr14:40045905-40045906	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560999088	chr14:40045910-40045911	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529856263	chr14:40045930-40045931	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370441038	chr14:40045953-40045954	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10151684	chr14:40045991-40045992	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529812419	chr14:40045997-40045998	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190488835	chr14:40046037-40046038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141130532	chr14:40046050-40046051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552493970	chr14:40046055-40046056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75360298	chr14:40046061-40046062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534554277	chr14:40046071-40046072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180890693	chr14:40046131-40046132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184254320	chr14:40046163-40046164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199567894	chr14:40046170-40046171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75069602	chr14:40046180-40046181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146659591	chr14:40046215-40046216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556744402	chr14:40046311-40046312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114201438	chr14:40046317-40046318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538986939	chr14:40046328-40046329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558820833	chr14:40046347-40046348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563335737	chr14:40046370-40046371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189158195	chr14:40046422-40046423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540985276	chr14:40046435-40046436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181404919	chr14:40046545-40046546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75728139	chr14:40046645-40046646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185644575	chr14:40046682-40046683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563542865	chr14:40046710-40046711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532346765	chr14:40046751-40046752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40038200-40039400	Enhancers	Fetal Heart	heart
2	chr14:40038400-40038800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr14:40038600-40039400	Enhancers	Pancreas	Pancrea
4	chr14:40045800-40046000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:40045800-40046000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr14:40045800-40046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:40045800-40046600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:40045800-40046600	Enhancers	NH-A	brain
9	chr14:40046000-40048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:40046000-40049400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:40048600-40048800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:40049400-40051800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr14:40049800-40051800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:40050000-40050400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:40050000-40050600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:40050200-40050600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:40051200-40051400	Active TSS	Primary T cells from cord blood	blood
18	chr14:40051400-40051600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr14:40051400-40051800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr14:40051600-40052000	Enhancers	Primary T cells from cord blood	blood
21	chr14:40051600-40052800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:40051800-40053800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:40052000-40052400	Weak transcription	Primary T cells from cord blood	blood
24	chr14:40052400-40052800	Enhancers	Primary T cells from cord blood	blood
25	chr14:40059000-40059200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:40059000-40060000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr14:40059200-40059400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:40059200-40059600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:40059200-40059800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:40059200-40059800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:40059200-40059800	Enhancers	HepG2	liver
32	chr14:40059400-40061600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:40059600-40060000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr14:40060000-40061400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:40061200-40061800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:40061200-40061800	Enhancers	Fetal Muscle Leg	muscle
37	chr14:40061200-40062000	Enhancers	Brain Germinal Matrix	brain
38	chr14:40061400-40062000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:40061600-40061800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:40061600-40062800	Enhancers	Rectal Smooth Muscle	rectum
41	chr14:40071200-40071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr14:40071400-40072600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:40072400-40072600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:40072400-40078200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:40072600-40073000	Enhancers	Primary T cells from cord blood	blood
46	chr14:40072600-40073000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:40072600-40074000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr14:40072600-40076000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:40072600-40078200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:40072800-40073200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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