Variant report

Variant	esv3492105
Chromosome Location	chr14:71437774-71438215
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	chr14:71423548..71425055-chr14:71436128..71438876,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61988738	chr14:71437782-71437783	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547590402	chr14:71437786-71437787	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201405840	chr14:71437837-71437838	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199555929	chr14:71437838-71437839	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200886316	chr14:71437839-71437840	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201221125	chr14:71437840-71437841	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113370727	chr14:71437868-71437869	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111326401	chr14:71437869-71437870	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61988739	chr14:71437932-71437933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373780289	chr14:71437971-71437972	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376983687	chr14:71438005-71438006	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542326323	chr14:71438007-71438008	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560809470	chr14:71438113-71438114	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565688326	chr14:71438143-71438144	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539726875	chr14:71438159-71438160	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551374140	chr14:71438160-71438161	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570908133	chr14:71438187-71438188	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7147862	chr14:71438202-71438203	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs556730487	chr14:71438204-71438205	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71401000-71443800	Weak transcription	Right Ventricle	heart
2	chr14:71402200-71442800	Weak transcription	HSMMtube	muscle
3	chr14:71411000-71443200	Weak transcription	Hela-S3	cervix
4	chr14:71411000-71443600	Weak transcription	NHLF	lung
5	chr14:71411000-71443800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:71411000-71443800	Weak transcription	Gastric	stomach
7	chr14:71411400-71444000	Weak transcription	Brain Angular Gyrus	brain
8	chr14:71411800-71444200	Weak transcription	Fetal Brain Male	brain
9	chr14:71414400-71443400	Weak transcription	Fetal Kidney	kidney
10	chr14:71414800-71438800	Weak transcription	Small Intestine	intestine
11	chr14:71414800-71443600	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:71414800-71443600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:71414800-71443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:71414800-71443800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:71415000-71443200	Weak transcription	Spleen	Spleen
16	chr14:71415000-71443400	Weak transcription	Esophagus	oesophagus
17	chr14:71415000-71443600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:71415000-71443600	Weak transcription	Aorta	Aorta
19	chr14:71415000-71443600	Weak transcription	Lung	lung
20	chr14:71415000-71443600	Weak transcription	Pancreas	Pancrea
21	chr14:71415000-71443800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:71416600-71443600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:71416600-71443600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:71422600-71442600	Weak transcription	A549	lung
25	chr14:71423000-71443800	Weak transcription	Brain Anterior Caudate	brain
26	chr14:71423200-71444400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:71426000-71508800	Weak transcription	Psoas Muscle	Psoas
28	chr14:71428000-71446200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:71429200-71444000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:71429600-71442600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:71429800-71438800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:71430000-71443600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:71430200-71443400	Weak transcription	HMEC	breast
34	chr14:71431000-71438800	Weak transcription	Right Atrium	heart
35	chr14:71431600-71438800	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:71431600-71443800	Weak transcription	Brain Substantia Nigra	brain
37	chr14:71432000-71446800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:71433200-71455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:71433400-71442600	Weak transcription	NHEK	skin
40	chr14:71433800-71443400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:71434200-71443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:71435600-71437800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:71435600-71437800	Strong transcription	Liver	Liver
44	chr14:71436000-71437800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr14:71436000-71437800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:71436000-71437800	Strong transcription	Fetal Thymus	thymus
47	chr14:71436000-71438200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:71436000-71438200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:71436000-71438400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:71436000-71438400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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