Variant report

Variant	esv3322064
Chromosome Location	chr14:105504607-105508805
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105499182..105500777-chr14:105502867..105506043,3	MCF-7	breast:
2	chr14:105483268..105491279-chr14:105504611..105511531,14	MCF-7	breast:
3	chr14:105508361..105510843-chr14:105512303..105515131,2	MCF-7	breast:
4	chr14:105445145..105447583-chr14:105504457..105506627,3	MCF-7	breast:
5	chr14:105443228..105445484-chr14:105507936..105510428,2	K562	blood:
6	chr14:105499346..105501568-chr14:105503114..105506089,2	MCF-7	breast:
7	chr14:105503195..105506061-chr14:105506902..105508657,2	MCF-7	breast:
8	chr14:105450804..105453157-chr14:105503880..105505958,2	MCF-7	breast:
9	chr14:105436479..105440301-chr14:105507906..105513107,6	MCF-7	breast:
10	chr14:105499189..105502656-chr14:105506829..105510545,6	MCF-7	breast:
11	chr14:105440892..105442421-chr14:105508272..105511059,2	MCF-7	breast:
12	chr14:105441849..105447369-chr14:105508453..105512933,7	MCF-7	breast:
13	chr14:105503195..105506061-chr14:105506902..105508657,2	MCF-7	breast:
14	chr14:105489544..105491309-chr14:105508216..105509890,2	K562	blood:
15	chr14:105502174..105504922-chr14:105632204..105633983,2	MCF-7	breast:
16	chr14:105447918..105451142-chr14:105504307..105507319,3	MCF-7	breast:
17	chr14:105450535..105452638-chr14:105507886..105509886,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR132-2	chr14:105506822-105506849	XLOC_011151

No data

Variant related genes	Relation type
ENSG00000185567	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000170779	chromatin interactions
NARG2	miRNA target sites

Extended variants
information (count: 178 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77612699	chr14:105504660-105504661	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182267088	chr14:105504677-105504678	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575975314	chr14:105504723-105504724	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544605019	chr14:105504752-105504753	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555264645	chr14:105504802-105504803	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535396931	chr14:105504900-105504901	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372963144	chr14:105504925-105504926	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111708329	chr14:105504935-105504936	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs76727293	chr14:105504967-105504968	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548885796	chr14:105504970-105504971	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200579410	chr14:105504971-105504972	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs55900547	chr14:105504972-105504973	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574756200	chr14:105504982-105504983	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540433691	chr14:105504984-105504985	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7140920	chr14:105505003-105505004	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs532520059	chr14:105505004-105505005	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373344844	chr14:105505010-105505011	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200352042	chr14:105505035-105505036	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201610000	chr14:105505036-105505037	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201185845	chr14:105505094-105505095	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs151302551	chr14:105505106-105505107	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200205132	chr14:105505109-105505110	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs117333741	chr14:105505120-105505121	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147928654	chr14:105505137-105505138	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531712629	chr14:105505213-105505214	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554247771	chr14:105505245-105505246	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs12878000	chr14:105505270-105505271	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs117534112	chr14:105505329-105505330	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4550381	chr14:105505336-105505337	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539862542	chr14:105505341-105505342	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs117047313	chr14:105505350-105505351	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs547617219	chr14:105505378-105505379	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576792319	chr14:105505416-105505417	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570650146	chr14:105505443-105505444	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539193194	chr14:105505449-105505450	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556201876	chr14:105505493-105505494	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs368559313	chr14:105505496-105505497	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs117879690	chr14:105505512-105505513	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs186576947	chr14:105505562-105505563	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191820322	chr14:105505650-105505651	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs542602434	chr14:105505667-105505668	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540524133	chr14:105505693-105505694	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560869052	chr14:105505742-105505743	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs183950563	chr14:105505761-105505762	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577009047	chr14:105505804-105505805	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs374158331	chr14:105505853-105505854	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs117251143	chr14:105505856-105505857	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs147059002	chr14:105505857-105505858	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542566525	chr14:105505880-105505881	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562138970	chr14:105505960-105505961	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD
Multiple sclerosis	20428171	CNVD

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105497800-105507800	Weak transcription	K562	blood
2	chr14:105500400-105505800	Weak transcription	A549	lung
3	chr14:105500600-105508000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:105500600-105512000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:105500800-105507600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:105504400-105504800	Enhancers	Fetal Heart	heart
7	chr14:105504400-105507200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:105504600-105504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:105504600-105505600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:105504600-105506000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:105504800-105505800	Weak transcription	Fetal Heart	heart
12	chr14:105504800-105512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:105505200-105505400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:105505200-105505400	Bivalent Enhancer	HepG2	liver
15	chr14:105505200-105506000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:105505200-105506000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:105505600-105505800	Enhancers	HepG2	liver
18	chr14:105505800-105506000	Enhancers	Right Ventricle	heart
19	chr14:105505800-105506200	Enhancers	A549	lung
20	chr14:105505800-105506200	Flanking Active TSS	HepG2	liver
21	chr14:105505800-105506800	Enhancers	Fetal Heart	heart
22	chr14:105506000-105506200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:105506000-105506400	Enhancers	Fetal Intestine Small	intestine
24	chr14:105506200-105507000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:105506200-105507000	Enhancers	HepG2	liver
26	chr14:105506200-105507600	Weak transcription	A549	lung
27	chr14:105506800-105508000	Weak transcription	Fetal Heart	heart
28	chr14:105507000-105507400	Weak transcription	HepG2	liver
29	chr14:105507000-105509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:105507400-105507800	Enhancers	HepG2	liver
31	chr14:105507600-105508200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:105507600-105508800	Enhancers	A549	lung
33	chr14:105507800-105508000	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr14:105507800-105508000	Enhancers	K562	blood
35	chr14:105507800-105508600	Bivalent Enhancer	HepG2	liver
36	chr14:105507800-105508600	Enhancers	NHEK	skin
37	chr14:105508000-105508200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:105508000-105508600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:105508000-105508600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:105508000-105509600	Enhancers	Fetal Heart	heart
41	chr14:105508000-105509800	Enhancers	Esophagus	oesophagus
42	chr14:105508200-105508600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr14:105508200-105508800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:105508200-105508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:105508400-105509000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:105508600-105508800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:105508600-105508800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:105508800-105509000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr14:105508800-105509200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:105508800-105509600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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