Variant report

Variant	esv1620357
Chromosome Location	chr14:35530668-35530669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35520110..35522080-chr14:35529783..35531632,2	MCF-7	breast:
2	chr14:35519616..35521249-chr14:35528506..35531084,2	MCF-7	breast:
3	chr14:35343011..35344577-chr14:35528833..35531225,2	MCF-7	breast:
4	chr14:35525027..35526542-chr14:35529643..35531640,2	K562	blood:

Variant related genes	Relation type
ENSG00000198604	chromatin interactions
ENSG00000258738	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544718936	chr14:35530669-35530670	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	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
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35516400-35531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:35516400-35531000	Weak transcription	Gastric	stomach
3	chr14:35516400-35537600	Weak transcription	Ovary	ovary
4	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
5	chr14:35516600-35537400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:35516800-35530800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:35516800-35536800	Weak transcription	Fetal Kidney	kidney
8	chr14:35516800-35537200	Weak transcription	Fetal Brain Male	brain
9	chr14:35516800-35537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
11	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:35517000-35531000	Weak transcription	Pancreas	Pancrea
13	chr14:35517200-35547200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:35517400-35537600	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:35517400-35544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
17	chr14:35517600-35536400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:35517600-35537600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:35517600-35537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:35517600-35545800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:35517800-35531400	Strong transcription	Fetal Stomach	stomach
23	chr14:35518000-35547400	Weak transcription	GM12878-XiMat	blood
24	chr14:35519400-35532000	Strong transcription	Placenta	Placenta
25	chr14:35519600-35531800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:35520200-35550800	Weak transcription	NHLF	lung
27	chr14:35520600-35531000	Weak transcription	Right Atrium	heart
28	chr14:35521000-35559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:35521600-35531800	Strong transcription	Liver	Liver
30	chr14:35521600-35540800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:35522000-35531800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:35522000-35532200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:35522200-35531600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:35522400-35531000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:35522600-35531800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:35522800-35531600	Strong transcription	Fetal Muscle Leg	muscle
37	chr14:35523000-35536800	Weak transcription	NHDF-Ad	bronchial
38	chr14:35523400-35531000	Weak transcription	Primary T cells from cord blood	blood
39	chr14:35523400-35537600	Weak transcription	HSMMtube	muscle
40	chr14:35524400-35531400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:35524400-35531600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:35524400-35532000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:35524800-35531800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:35524800-35532000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:35525800-35531800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr14:35525800-35531800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:35525800-35537800	Weak transcription	Psoas Muscle	Psoas
48	chr14:35526200-35531800	Strong transcription	Fetal Intestine Large	intestine
49	chr14:35526200-35532000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:35526400-35532000	Strong transcription	Primary B cells from cord blood	blood

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