Variant report

Variant	esv2756243
Chromosome Location	chr14:45107461-45207565
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: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	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
2	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:
3	chr14:44838296..44838875-chr14:45126583..45127520,3	MCF-7	breast:
4	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
5	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
6	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
7	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:
8	chr14:44922572..44923387-chr14:45126451..45127121,2	MCF-7	breast:
9	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
10	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
11	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:

No data

Extended variants
information (count: 1485 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1485 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2415872	chr14:45107461-45107462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560734096	chr14:45107473-45107474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572833164	chr14:45107477-45107478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540151278	chr14:45107496-45107497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552201593	chr14:45107517-45107518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186895926	chr14:45107565-45107566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565210524	chr14:45107567-45107568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199727083	chr14:45107595-45107596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370464496	chr14:45107597-45107598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376777215	chr14:45107604-45107605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532158392	chr14:45107630-45107631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191353624	chr14:45107727-45107728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149519397	chr14:45107736-45107737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143068095	chr14:45107739-45107740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549319132	chr14:45107791-45107792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567550136	chr14:45107793-45107794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183414596	chr14:45107797-45107798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59336931	chr14:45107803-45107804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571987696	chr14:45107926-45107927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138570648	chr14:45107985-45107986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141653447	chr14:45108017-45108018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565392912	chr14:45108040-45108041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77263767	chr14:45108064-45108065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554776187	chr14:45108130-45108131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146170752	chr14:45108134-45108135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568189472	chr14:45108149-45108150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554693524	chr14:45108166-45108167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572726616	chr14:45108254-45108255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540255917	chr14:45108264-45108265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564802442	chr14:45108292-45108293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537344856	chr14:45108344-45108345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10484175	chr14:45108358-45108359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs368008916	chr14:45108364-45108365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187780856	chr14:45108370-45108371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549187934	chr14:45108375-45108376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554112399	chr14:45108422-45108423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559243950	chr14:45108460-45108461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17115370	chr14:45108462-45108463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192908595	chr14:45108475-45108476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546995263	chr14:45108489-45108490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185113488	chr14:45108491-45108492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80051084	chr14:45108532-45108533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189944506	chr14:45108585-45108586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551338986	chr14:45108596-45108597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536923097	chr14:45108607-45108608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180759981	chr14:45108620-45108621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139096919	chr14:45108641-45108642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536876328	chr14:45108644-45108645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554350965	chr14:45108645-45108646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192970192	chr14:45108773-45108774	Enhancers	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45104200-45108000	Weak transcription	Ovary	ovary
2	chr14:45106800-45108400	Weak transcription	Fetal Lung	lung
3	chr14:45107800-45109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:45108000-45109200	Enhancers	Ovary	ovary
5	chr14:45108400-45109000	Enhancers	Fetal Lung	lung
6	chr14:45108600-45109000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:45108600-45109600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:45108600-45109800	Enhancers	Fetal Kidney	kidney
9	chr14:45109000-45109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:45109000-45109800	Flanking Active TSS	Fetal Lung	lung
11	chr14:45109200-45109600	Weak transcription	Ovary	ovary
12	chr14:45109400-45110200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr14:45109600-45110200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:45109600-45110200	Enhancers	Ovary	ovary
15	chr14:45109800-45110200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:45109800-45110400	Enhancers	Fetal Lung	lung
17	chr14:45117600-45118600	Enhancers	Fetal Heart	heart
18	chr14:45118600-45126000	Weak transcription	Fetal Heart	heart
19	chr14:45121000-45124200	Enhancers	Fetal Lung	lung
20	chr14:45122400-45123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:45122800-45123200	Enhancers	Fetal Brain Male	brain
22	chr14:45122800-45123200	Enhancers	Fetal Stomach	stomach
23	chr14:45123600-45126000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:45123800-45124000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr14:45124200-45125800	Weak transcription	Fetal Lung	lung
26	chr14:45125800-45128000	Enhancers	Fetal Lung	lung
27	chr14:45126000-45126800	Enhancers	Liver	Liver
28	chr14:45126000-45127000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:45126000-45127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:45126000-45127600	Enhancers	Fetal Heart	heart
31	chr14:45126600-45127400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:45126600-45127400	Enhancers	Fetal Brain Female	brain
33	chr14:45126800-45127200	Flanking Active TSS	Liver	Liver
34	chr14:45127200-45128400	Enhancers	Liver	Liver
35	chr14:45127400-45131600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:45128400-45131000	Weak transcription	Liver	Liver
37	chr14:45131000-45131600	Enhancers	Liver	Liver
38	chr14:45131200-45132000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:45131200-45132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:45131400-45131600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr14:45131400-45131800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr14:45131400-45131800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr14:45131400-45132400	Enhancers	Fetal Intestine Small	intestine
44	chr14:45131400-45132600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:45131400-45133200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr14:45131600-45131800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr14:45131600-45132000	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr14:45131600-45132000	Flanking Active TSS	Liver	Liver
49	chr14:45131600-45132200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:45131600-45132200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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