Variant report

Variant	esv2413773
Chromosome Location	chr14:66026071-66026509
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	chr14:66025175..66028940-chr14:66031643..66034367,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577741993	chr14:66026099-66026100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540161608	chr14:66026111-66026112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149818619	chr14:66026112-66026113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570149612	chr14:66026197-66026198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529163128	chr14:66026201-66026202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113370672	chr14:66026232-66026233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73286112	chr14:66026273-66026274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145772192	chr14:66026302-66026303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183113762	chr14:66026316-66026317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551026959	chr14:66026325-66026326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555743929	chr14:66026381-66026382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375428989	chr14:66026387-66026388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188193637	chr14:66026405-66026406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28370375	chr14:66026423-66026424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs202029347	chr14:66026439-66026440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17102765	chr14:66026478-66026479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65995200-66028000	Weak transcription	Dnd41	blood
2	chr14:65995400-66061000	Weak transcription	Gastric	stomach
3	chr14:66002400-66028000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:66003000-66028000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:66003400-66028200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:66003800-66041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:66005400-66028400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:66008600-66028000	Weak transcription	Primary B cells from cord blood	blood
9	chr14:66013200-66028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:66015200-66033600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:66016000-66032800	Weak transcription	Small Intestine	intestine
12	chr14:66016000-66041400	Weak transcription	Ovary	ovary
13	chr14:66016600-66028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:66016600-66033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:66018200-66031600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:66018600-66027800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:66019400-66028200	Weak transcription	GM12878-XiMat	blood
18	chr14:66021400-66046400	Weak transcription	Thymus	Thymus
19	chr14:66021800-66043000	Weak transcription	Fetal Intestine Small	intestine
20	chr14:66022400-66028000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:66022400-66028000	Weak transcription	Fetal Intestine Large	intestine
22	chr14:66022400-66033400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:66022400-66042200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:66022400-66047800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:66022400-66052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:66022600-66026600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:66022800-66032800	Weak transcription	Adipose Nuclei	Adipose
28	chr14:66022800-66037000	Weak transcription	Stomach Mucosa	stomach
29	chr14:66023200-66028200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:66023200-66029400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:66023200-66033000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:66023200-66037400	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:66023200-66040200	Weak transcription	Lung	lung
34	chr14:66023200-66052000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:66023200-66054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:66023400-66028200	Weak transcription	Left Ventricle	heart
37	chr14:66023400-66032800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:66023600-66031200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:66023600-66038200	Weak transcription	Brain Substantia Nigra	brain
40	chr14:66023800-66028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:66024000-66026600	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:66025000-66028000	Weak transcription	Fetal Thymus	thymus
43	chr14:66025200-66026400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:66025200-66026400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr14:66025200-66026800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:66025400-66026400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr14:66025400-66028000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:66025400-66040400	Weak transcription	Fetal Lung	lung
49	chr14:66025600-66027200	Weak transcription	Brain Anterior Caudate	brain
50	chr14:66025600-66027200	Weak transcription	Brain Inferior Temporal Lobe	brain

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