Variant report

Variant	nsv564699
Chromosome Location	chr14:45084792-45201544
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
2	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
3	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
4	chr14:44838296..44838875-chr14:45126583..45127520,3	MCF-7	breast:
5	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
6	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
7	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:
8	chr14:45082497..45084291-chr14:45088461..45090212,2	MCF-7	breast:
9	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
10	chr14:44922572..44923387-chr14:45126451..45127121,2	MCF-7	breast:
11	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
12	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
13	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:

No data

Extended variants
information (count: 1707 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1707 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4321100	chr14:45085666-45085667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73335319	chr14:45085690-45085691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553038594	chr14:45085719-45085720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577974090	chr14:45085767-45085768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150603657	chr14:45085771-45085772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538955890	chr14:45085772-45085773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576785291	chr14:45085791-45085792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371075616	chr14:45085799-45085800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79925508	chr14:45085819-45085820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575518867	chr14:45085826-45085827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140025306	chr14:45085874-45085875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62011952	chr14:45085978-45085979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17549579	chr14:45086000-45086001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574105399	chr14:45086080-45086081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62011953	chr14:45086112-45086113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186767102	chr14:45086175-45086176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17631634	chr14:45086207-45086208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192709974	chr14:45086219-45086220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367721455	chr14:45086307-45086308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575768580	chr14:45086339-45086340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531010140	chr14:45086340-45086341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184836962	chr14:45086343-45086344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143787086	chr14:45086362-45086363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189215898	chr14:45086387-45086388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72671004	chr14:45086442-45086443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546591057	chr14:45086446-45086447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192839246	chr14:45086456-45086457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538893488	chr14:45086509-45086510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370061994	chr14:45086558-45086559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145292630	chr14:45086559-45086560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542692671	chr14:45086602-45086603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146528600	chr14:45086645-45086646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8017089	chr14:45086679-45086680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140988042	chr14:45086758-45086759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554781714	chr14:45086766-45086767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202195456	chr14:45086777-45086778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574013089	chr14:45086794-45086795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17115338	chr14:45086814-45086815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552912490	chr14:45086815-45086816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577607645	chr14:45086826-45086827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545048983	chr14:45086979-45086980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563618343	chr14:45087018-45087019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531271028	chr14:45087031-45087032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542820197	chr14:45087054-45087055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184978122	chr14:45087094-45087095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74700706	chr14:45087116-45087117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80019246	chr14:45087131-45087132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571404924	chr14:45087140-45087141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532141053	chr14:45087141-45087142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189377735	chr14:45087169-45087170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45085600-45087000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:45087000-45089600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:45088800-45090200	Enhancers	Fetal Kidney	kidney
4	chr14:45089000-45090000	Enhancers	Ovary	ovary
5	chr14:45089000-45090400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:45089200-45091000	Enhancers	Fetal Heart	heart
7	chr14:45089600-45090000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:45089600-45090200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:45090000-45091000	Weak transcription	Ovary	ovary
10	chr14:45091000-45091600	Enhancers	Ovary	ovary
11	chr14:45091600-45094200	Weak transcription	Ovary	ovary
12	chr14:45094200-45094800	Enhancers	Ovary	ovary
13	chr14:45103800-45106800	Enhancers	Fetal Lung	lung
14	chr14:45104000-45104200	Enhancers	Ovary	ovary
15	chr14:45104200-45108000	Weak transcription	Ovary	ovary
16	chr14:45106800-45108400	Weak transcription	Fetal Lung	lung
17	chr14:45107800-45109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:45108000-45109200	Enhancers	Ovary	ovary
19	chr14:45108400-45109000	Enhancers	Fetal Lung	lung
20	chr14:45108600-45109000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr14:45108600-45109600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:45108600-45109800	Enhancers	Fetal Kidney	kidney
23	chr14:45109000-45109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:45109000-45109800	Flanking Active TSS	Fetal Lung	lung
25	chr14:45109200-45109600	Weak transcription	Ovary	ovary
26	chr14:45109400-45110200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr14:45109600-45110200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:45109600-45110200	Enhancers	Ovary	ovary
29	chr14:45109800-45110200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:45109800-45110400	Enhancers	Fetal Lung	lung
31	chr14:45117600-45118600	Enhancers	Fetal Heart	heart
32	chr14:45118600-45126000	Weak transcription	Fetal Heart	heart
33	chr14:45121000-45124200	Enhancers	Fetal Lung	lung
34	chr14:45122400-45123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:45122800-45123200	Enhancers	Fetal Brain Male	brain
36	chr14:45122800-45123200	Enhancers	Fetal Stomach	stomach
37	chr14:45123600-45126000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:45123800-45124000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr14:45124200-45125800	Weak transcription	Fetal Lung	lung
40	chr14:45125800-45128000	Enhancers	Fetal Lung	lung
41	chr14:45126000-45126800	Enhancers	Liver	Liver
42	chr14:45126000-45127000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:45126000-45127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:45126000-45127600	Enhancers	Fetal Heart	heart
45	chr14:45126600-45127400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:45126600-45127400	Enhancers	Fetal Brain Female	brain
47	chr14:45126800-45127200	Flanking Active TSS	Liver	Liver
48	chr14:45127200-45128400	Enhancers	Liver	Liver
49	chr14:45127400-45131600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:45128400-45131000	Weak transcription	Liver	Liver

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