Variant report

Variant	esv1601570
Chromosome Location	chr14:45402530-45402531
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	chr14:45401179..45403695-chr14:45430230..45432640,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179454	chromatin interactions
ENSG00000198718	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79923799	chr14:45402530-45402531	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs397784288	chr14:45402531-45402532	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
3	chr14:45383000-45405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:45384400-45406800	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:45384800-45408000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:45386600-45405600	Weak transcription	Fetal Lung	lung
7	chr14:45386800-45405600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:45389600-45406800	Weak transcription	HSMMtube	muscle
9	chr14:45390200-45406800	Weak transcription	Fetal Stomach	stomach
10	chr14:45390400-45406600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:45390400-45408200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:45390600-45408400	Weak transcription	Fetal Brain Female	brain
13	chr14:45391200-45405800	Weak transcription	Fetal Intestine Large	intestine
14	chr14:45391200-45411000	Weak transcription	HSMM	muscle
15	chr14:45391200-45413000	Weak transcription	HUVEC	blood vessel
16	chr14:45391400-45406400	Weak transcription	Fetal Intestine Small	intestine
17	chr14:45391400-45406800	Weak transcription	Thymus	Thymus
18	chr14:45394200-45413800	Weak transcription	HepG2	liver
19	chr14:45394400-45408000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:45394600-45408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:45394800-45406800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:45395000-45408000	Weak transcription	Gastric	stomach
23	chr14:45395200-45403000	Weak transcription	GM12878-XiMat	blood
24	chr14:45395200-45403200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:45395200-45403400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:45395200-45412400	Weak transcription	Brain Anterior Caudate	brain
27	chr14:45395200-45413800	Weak transcription	Fetal Brain Male	brain
28	chr14:45395400-45403200	Weak transcription	Osteobl	bone
29	chr14:45395400-45408000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:45395400-45414400	Weak transcription	NH-A	brain
31	chr14:45395600-45416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:45395800-45406600	Weak transcription	Fetal Kidney	kidney
33	chr14:45395800-45408000	Weak transcription	Spleen	Spleen
34	chr14:45396200-45405600	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:45396200-45405800	Weak transcription	Aorta	Aorta
36	chr14:45396200-45406800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:45396200-45428400	Weak transcription	HMEC	breast
38	chr14:45396400-45406800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:45396600-45406800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:45396600-45408000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:45396600-45414200	Weak transcription	Ovary	ovary
42	chr14:45396600-45416400	Weak transcription	Psoas Muscle	Psoas
43	chr14:45396800-45402800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:45396800-45406000	Weak transcription	NHLF	lung
45	chr14:45396800-45408000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:45396800-45408000	Weak transcription	Lung	lung
47	chr14:45396800-45413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:45396800-45414200	Weak transcription	Fetal Heart	heart
49	chr14:45397000-45414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:45397000-45417000	Weak transcription	Stomach Mucosa	stomach

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