Variant report

Variant	esv3391540
Chromosome Location	chr14:77779171-77779353
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	chr14:77423294..77426235-chr14:77778174..77779812,2	MCF-7	breast:
2	chr14:77779002..77781613-chr14:77924414..77926801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258602	chromatin interactions
ENSG00000100591	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557408283	chr14:77779205-77779206	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577350920	chr14:77779255-77779256	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543201492	chr14:77779256-77779257	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs556782338	chr14:77779278-77779279	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573792451	chr14:77779281-77779282	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186022524	chr14:77779289-77779290	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142268774	chr14:77779302-77779303	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527667000	chr14:77779326-77779327	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2363640	chr14:77779333-77779334	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs192057316	chr14:77779337-77779338	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77742400-77780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr14:77752600-77779200	Weak transcription	Fetal Heart	heart
4	chr14:77766400-77779200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:77767800-77780400	Weak transcription	Colonic Mucosa	Colon
6	chr14:77768000-77780600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:77768000-77780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:77768800-77780400	Weak transcription	Right Ventricle	heart
9	chr14:77770000-77780400	Weak transcription	Esophagus	oesophagus
10	chr14:77770200-77779200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:77770800-77785800	Weak transcription	K562	blood
12	chr14:77771200-77780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:77771600-77779600	Weak transcription	Fetal Kidney	kidney
14	chr14:77772000-77780400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:77772400-77780400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:77772400-77780400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:77772400-77780600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:77772600-77779200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:77772600-77780600	Weak transcription	Pancreas	Pancrea
20	chr14:77772600-77781000	Weak transcription	Lung	lung
21	chr14:77772600-77781400	Weak transcription	Gastric	stomach
22	chr14:77772600-77782200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:77772600-77783800	Weak transcription	Dnd41	blood
24	chr14:77772600-77785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:77772600-77786400	Weak transcription	Aorta	Aorta
26	chr14:77772800-77780000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:77772800-77780800	Weak transcription	Left Ventricle	heart
28	chr14:77772800-77782400	Weak transcription	Liver	Liver
29	chr14:77772800-77785800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:77773200-77779400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:77773800-77779200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:77773800-77786800	Weak transcription	Small Intestine	intestine
33	chr14:77774000-77779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:77774000-77779400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:77774000-77779400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:77774000-77779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:77774000-77779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:77774000-77779800	Weak transcription	Ovary	ovary
39	chr14:77774000-77780200	Weak transcription	Adipose Nuclei	Adipose
40	chr14:77774000-77780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:77774000-77780400	Weak transcription	Fetal Lung	lung
42	chr14:77774000-77780400	Weak transcription	Osteobl	bone
43	chr14:77774000-77783400	Weak transcription	Stomach Mucosa	stomach
44	chr14:77774200-77779200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:77774200-77779200	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:77774200-77779200	Weak transcription	HepG2	liver
47	chr14:77774200-77779200	Weak transcription	NHDF-Ad	bronchial
48	chr14:77774200-77779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:77774200-77779400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:77774200-77779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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