Variant report

Variant	esv3365271
Chromosome Location	chr14:35225009-35225410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35216580..35218836-chr14:35224214..35226003,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543510558	chr14:35225013-35225014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561102335	chr14:35225058-35225059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10147894	chr14:35225079-35225080	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555729342	chr14:35225134-35225135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138182746	chr14:35225167-35225168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562438764	chr14:35225181-35225182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146543442	chr14:35225208-35225209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181279066	chr14:35225239-35225240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551377754	chr14:35225260-35225261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200495690	chr14:35225272-35225273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571276435	chr14:35225273-35225274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199611674	chr14:35225284-35225285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8017454	chr14:35225319-35225320	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534051404	chr14:35225320-35225321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563317832	chr14:35225321-35225322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548364033	chr14:35225322-35225323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79817702	chr14:35225338-35225339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71421909	chr14:35225340-35225341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71421910	chr14:35225344-35225345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538164731	chr14:35225348-35225349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547717170	chr14:35225371-35225372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567413684	chr14:35225376-35225377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556474359	chr14:35225393-35225394	Weak transcription Strong 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
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

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35210600-35226800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:35211800-35227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:35212200-35225800	Weak transcription	Lung	lung
4	chr14:35215000-35226000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:35215000-35226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:35215200-35225600	Weak transcription	Spleen	Spleen
7	chr14:35216000-35225800	Weak transcription	Fetal Lung	lung
8	chr14:35216600-35230600	Weak transcription	K562	blood
9	chr14:35217800-35225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:35218200-35226600	Weak transcription	Aorta	Aorta
11	chr14:35218200-35232400	Weak transcription	Psoas Muscle	Psoas
12	chr14:35219200-35230600	Weak transcription	Fetal Kidney	kidney
13	chr14:35219400-35262000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:35219400-35267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:35219600-35226000	Weak transcription	Colonic Mucosa	Colon
16	chr14:35219600-35229400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:35219600-35254600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:35219800-35229200	Weak transcription	NHLF	lung
19	chr14:35219800-35229800	Weak transcription	Small Intestine	intestine
20	chr14:35219800-35231600	Weak transcription	Right Ventricle	heart
21	chr14:35220200-35231000	Weak transcription	Hela-S3	cervix
22	chr14:35220400-35225800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:35220400-35225800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:35220400-35225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:35220400-35225800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:35220400-35232200	Weak transcription	HSMMtube	muscle
27	chr14:35220600-35226800	Weak transcription	Gastric	stomach
28	chr14:35220600-35227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:35220800-35226000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:35220800-35226000	Weak transcription	HMEC	breast
31	chr14:35220800-35226200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:35220800-35227400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:35220800-35229200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:35221000-35227400	Weak transcription	GM12878-XiMat	blood
35	chr14:35221000-35230400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:35221000-35234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:35221000-35234600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:35221000-35253200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:35221000-35255800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:35221200-35225800	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:35221200-35229200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:35221200-35229400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:35221200-35229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:35221200-35231000	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:35221200-35233000	Weak transcription	Brain Anterior Caudate	brain
46	chr14:35221200-35262000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr14:35221400-35225800	Weak transcription	Left Ventricle	heart
48	chr14:35221400-35230600	Weak transcription	Fetal Brain Male	brain
49	chr14:35221400-35234400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:35221400-35234600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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