Variant report

Variant	esv1602631
Chromosome Location	chr14:45707332-45707333
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	chr14:45701019..45703145-chr14:45705910..45707479,2	MCF-7	breast:
2	chr14:45705828..45707853-chr14:45712067..45713833,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 53 )

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	rs397708658	chr14:45707333-45707334	Weak transcription Strong transcription	n/a	n/a	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45631800-45711400	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
3	chr14:45655600-45719200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:45662800-45711400	Weak transcription	Brain Anterior Caudate	brain
5	chr14:45669600-45712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:45670000-45711400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:45670000-45711600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:45674600-45719200	Weak transcription	Colonic Mucosa	Colon
9	chr14:45675000-45711600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:45675200-45711600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:45676200-45711600	Weak transcription	NHLF	lung
12	chr14:45678400-45711800	Strong transcription	Dnd41	blood
13	chr14:45680400-45714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:45681800-45711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:45682000-45721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:45682200-45711200	Weak transcription	Fetal Brain Female	brain
17	chr14:45682200-45714800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:45682200-45719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:45682400-45720400	Weak transcription	Brain Germinal Matrix	brain
20	chr14:45684800-45719400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:45685200-45710000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:45686600-45719200	Weak transcription	Fetal Heart	heart
23	chr14:45687200-45719200	Weak transcription	HSMMtube	muscle
24	chr14:45690800-45709200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:45690800-45711600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:45691000-45710200	Strong transcription	Primary B cells from cord blood	blood
27	chr14:45691000-45712200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:45691600-45709600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr14:45691600-45712600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:45691600-45713800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:45691800-45711400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:45691800-45711400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr14:45691800-45712000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:45692200-45719000	Weak transcription	Small Intestine	intestine
35	chr14:45692200-45719800	Weak transcription	Esophagus	oesophagus
36	chr14:45692800-45718600	Weak transcription	Lung	lung
37	chr14:45693600-45719200	Weak transcription	K562	blood
38	chr14:45693600-45719200	Weak transcription	NHEK	skin
39	chr14:45695000-45721600	Weak transcription	Pancreas	Pancrea
40	chr14:45697200-45711200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:45699000-45709200	Strong transcription	GM12878-XiMat	blood
42	chr14:45699400-45711400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr14:45699600-45712200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:45699600-45715200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:45699800-45711800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:45699800-45712200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:45699800-45715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:45700200-45708600	Weak transcription	NH-A	brain
49	chr14:45700200-45711600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:45700200-45711600	Weak transcription	Right Ventricle	heart

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