Variant report

Variant	esv3308372
Chromosome Location	chr14:35128027-35136679
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35129877..35132741-chr14:35133755..35136058,2	MCF-7	breast:
2	chr14:35135275..35136944-chr14:35151040..35152580,2	MCF-7	breast:
3	chr14:35130824..35132535-chr14:35133653..35135571,2	K562	blood:
4	chr14:35022004..35024254-chr14:35128832..35131570,2	MCF-7	breast:
5	chr14:35120647..35123453-chr14:35134189..35136107,2	MCF-7	breast:
6	chr14:35016452..35018611-chr14:35133910..35135545,2	K562	blood:
7	chr14:35118550..35121820-chr14:35125434..35129120,4	MCF-7	breast:
8	chr14:35130824..35132535-chr14:35133653..35135571,2	K562	blood:
9	chr14:35129877..35132741-chr14:35133755..35136058,2	MCF-7	breast:

No data

Extended variants
information (count: 313 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551990561	chr14:35128076-35128077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557650323	chr14:35128084-35128085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185424102	chr14:35128123-35128124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548471808	chr14:35128184-35128185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575523355	chr14:35128192-35128193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527770618	chr14:35128195-35128196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367644460	chr14:35128242-35128243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537474073	chr14:35128316-35128317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371754996	chr14:35128398-35128399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539824941	chr14:35128407-35128408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557049932	chr14:35128408-35128409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200135748	chr14:35128410-35128411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140009050	chr14:35128422-35128423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572993155	chr14:35128430-35128431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539936853	chr14:35128438-35128439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73240177	chr14:35128448-35128449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143563151	chr14:35128459-35128460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376824917	chr14:35128487-35128488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556048767	chr14:35128502-35128503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113018487	chr14:35128509-35128510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34762869	chr14:35128587-35128588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540376543	chr14:35128632-35128633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200186123	chr14:35128635-35128636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189901387	chr14:35128686-35128687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562933258	chr14:35128707-35128708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561526634	chr14:35128882-35128883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545494678	chr14:35128906-35128907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200358126	chr14:35128922-35128923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558981080	chr14:35128974-35128975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528285460	chr14:35129006-35129007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548051168	chr14:35129024-35129025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146797816	chr14:35129056-35129057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530698710	chr14:35129075-35129076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551001369	chr14:35129078-35129079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181568808	chr14:35129082-35129083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539804501	chr14:35129132-35129133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553520360	chr14:35129155-35129156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566946028	chr14:35129158-35129159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536076714	chr14:35129183-35129184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573792635	chr14:35129194-35129195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544148792	chr14:35129213-35129214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57579428	chr14:35129245-35129246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575936320	chr14:35129259-35129260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547488835	chr14:35129280-35129281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544572336	chr14:35129286-35129287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372889464	chr14:35129318-35129319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186192399	chr14:35129358-35129359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545357519	chr14:35129359-35129360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559043966	chr14:35129365-35129366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376317225	chr14:35129372-35129373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	20067559	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
Esophageal cancer	20955586	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
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35121600-35131800	Weak transcription	Placenta	Placenta
2	chr14:35127600-35128400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:35127600-35128400	Enhancers	HMEC	breast
4	chr14:35127600-35128600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:35127800-35128600	Enhancers	NHEK	skin
6	chr14:35128600-35131800	Weak transcription	NHEK	skin
7	chr14:35128600-35135000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:35131800-35132600	Enhancers	NHEK	skin
9	chr14:35131800-35133000	Enhancers	Placenta	Placenta
10	chr14:35132600-35135000	Weak transcription	NHEK	skin
11	chr14:35133000-35136200	Weak transcription	Placenta	Placenta
12	chr14:35134000-35134400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr14:35134200-35134400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:35134200-35135200	Enhancers	A549	lung
15	chr14:35134200-35135400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:35134200-35136000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:35134200-35136400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:35134200-35136400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:35134200-35136400	Enhancers	HUVEC	blood vessel
20	chr14:35134200-35136400	Enhancers	NHLF	lung
21	chr14:35134200-35136600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:35134200-35136600	Enhancers	NHDF-Ad	bronchial
23	chr14:35134400-35135000	Enhancers	Fetal Muscle Leg	muscle
24	chr14:35134400-35135200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:35134400-35136000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:35134400-35136200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:35134400-35136400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:35134400-35137000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:35134400-35139200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:35134600-35135000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:35134600-35135000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:35134600-35135200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:35134600-35135800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr14:35134600-35136000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:35134600-35136000	Enhancers	Hela-S3	cervix
36	chr14:35134600-35136000	Enhancers	Osteobl	bone
37	chr14:35134600-35136400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:35134600-35136600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr14:35134600-35137800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:35134800-35135200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr14:35134800-35135600	Enhancers	Fetal Stomach	stomach
42	chr14:35134800-35135800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:35134800-35136000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:35134800-35136000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr14:35134800-35136000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:35134800-35136400	Enhancers	Primary hematopoietic stem cells	blood
47	chr14:35135000-35135600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:35135000-35135800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:35135000-35135800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:35135000-35135800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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