Variant report

Variant	esv2753130
Chromosome Location	chr14:45089423-45207565
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	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
2	chr14:44922572..44923387-chr14:45126451..45127121,2	MCF-7	breast:
3	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
4	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:
5	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
6	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
7	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
8	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
9	chr14:44838296..44838875-chr14:45126583..45127520,3	MCF-7	breast:
10	chr14:45082497..45084291-chr14:45088461..45090212,2	MCF-7	breast:
11	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:
12	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
13	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:

No data

Extended variants
information (count: 1813 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1813 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41434044	chr14:45089423-45089424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138275446	chr14:45089524-45089525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149575916	chr14:45089561-45089562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543334871	chr14:45089583-45089584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1953851	chr14:45089605-45089606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576678666	chr14:45089674-45089675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144309146	chr14:45089687-45089688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112869902	chr14:45089763-45089764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531542028	chr14:45089781-45089782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543567418	chr14:45089801-45089802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561752518	chr14:45089826-45089827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79768315	chr14:45089827-45089828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548709479	chr14:45089843-45089844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368802511	chr14:45089890-45089891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187791139	chr14:45089935-45089936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552641691	chr14:45089938-45089939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193156120	chr14:45089948-45089949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185001943	chr14:45089975-45089976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568944882	chr14:45089999-45090000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34462226	chr14:45090030-45090031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550302531	chr14:45090082-45090083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568570916	chr14:45090106-45090107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190193861	chr14:45090117-45090118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564123937	chr14:45090155-45090156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73335330	chr14:45090218-45090219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10132478	chr14:45090279-45090280	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147064534	chr14:45090370-45090371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35619324	chr14:45090375-45090376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202138687	chr14:45090376-45090377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17115347	chr14:45090378-45090379	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192792302	chr14:45090394-45090395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183901191	chr14:45090395-45090396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188287163	chr14:45090439-45090440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180718912	chr14:45090499-45090500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540335176	chr14:45090501-45090502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543351987	chr14:45090521-45090522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186351465	chr14:45090558-45090559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573742824	chr14:45090597-45090598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554504454	chr14:45090613-45090614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35594246	chr14:45090615-45090616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541257802	chr14:45090632-45090633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560555104	chr14:45090643-45090644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527805276	chr14:45090669-45090670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552579490	chr14:45090684-45090685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564326957	chr14:45090729-45090730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376641162	chr14:45090737-45090738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531993327	chr14:45090741-45090742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550198372	chr14:45090754-45090755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190230181	chr14:45090901-45090902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553716344	chr14:45090934-45090935	Enhancers 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:126 , 50 per page) page: 1 2 3

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

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