Variant report

Variant	esv3350543
Chromosome Location	chr14:45393959-45394298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45387612..45390457-chr14:45393644..45395655,2	K562	blood:
2	chr14:45366158..45368654-chr14:45393073..45395433,2	MCF-7	breast:
3	chr14:45368812..45371343-chr14:45392827..45395255,2	MCF-7	breast:

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KLHL28	hsa-miR-30b-5p	chr14:45394130-45394124
2	KLHL28	hsa-miR-30b-5p	chr14:45394081-45394075
3	KLHL28	hsa-miR-93-5p	chr14:45394266-45394288
4	KLHL28	hsa-miR-93-5p	chr14:45394272-45394265

Variant related genes	Relation type
ENSG00000179476	chromatin interactions
ENSG00000258633	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561762867	chr14:45394035-45394036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530196508	chr14:45394057-45394058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs57261684	chr14:45394070-45394071	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560536128	chr14:45394103-45394104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs181925280	chr14:45394124-45394125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142959695	chr14:45394150-45394151	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73334108	chr14:45394152-45394153	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532063484	chr14:45394162-45394163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs151117139	chr14:45394171-45394172	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568603519	chr14:45394254-45394255	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185361638	chr14:45394278-45394279	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
12	rs553543314	chr14:45394293-45394294	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45382000-45400600	Weak transcription	Left Ventricle	heart
4	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
5	chr14:45383000-45397600	Weak transcription	Liver	Liver
6	chr14:45383000-45405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:45384400-45406800	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:45384800-45397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:45384800-45397400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:45384800-45408000	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:45386600-45405600	Weak transcription	Fetal Lung	lung
12	chr14:45386800-45405600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:45388400-45398000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:45389600-45406800	Weak transcription	HSMMtube	muscle
15	chr14:45390000-45397400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:45390200-45398200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:45390200-45406800	Weak transcription	Fetal Stomach	stomach
18	chr14:45390400-45400600	Weak transcription	Primary T cells from cord blood	blood
19	chr14:45390400-45406600	Weak transcription	Brain Germinal Matrix	brain
20	chr14:45390400-45408200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:45390600-45397600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:45390600-45408400	Weak transcription	Fetal Brain Female	brain
23	chr14:45391200-45397000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:45391200-45400000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:45391200-45405800	Weak transcription	Fetal Intestine Large	intestine
26	chr14:45391200-45411000	Weak transcription	HSMM	muscle
27	chr14:45391200-45413000	Weak transcription	HUVEC	blood vessel
28	chr14:45391400-45406400	Weak transcription	Fetal Intestine Small	intestine
29	chr14:45391400-45406800	Weak transcription	Thymus	Thymus
30	chr14:45391800-45394200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:45392200-45397400	Weak transcription	Adipose Nuclei	Adipose
32	chr14:45392400-45397400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:45392800-45396800	Weak transcription	Primary B cells from cord blood	blood
34	chr14:45393000-45397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:45393200-45396800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:45394200-45395600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:45394200-45413800	Weak transcription	HepG2	liver

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