Variant report

Variant	esv3354471
Chromosome Location	chr14:105325153-105325866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr14:105325204-105325437	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:105325013-105328346	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:105325716-105325765	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105325199..105327039-chr14:105327761..105330678,2	K562	blood:
2	chr14:105264903..105267195-chr14:105323456..105325361,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKT1-1	chr14:105325183-105325493	NONHSAT040293
2	lnc-AKT1-1	chr14:105325778-105325789	NONHSAT040295
3	lnc-AKT1-1	chr14:105325183-105325493	NONHSAT040292
4	lnc-AKT1-1	chr14:105325769-105326662	NONHSAT040294
5	lnc-AKT1-1	chr14:105324129-105325173	ENSG00000258593.2
6	lnc-AKT1-1	chr14:105325379-105325618	ENSG00000258593.1
7	lnc-AKT1-1	chr14:105325098-105325205	NONHSAT040291

No data

Variant related genes	Relation type
ENSG00000258593	TF binding region
ENSG00000179627	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71421891	chr14:105325161-105325162	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs141246311	chr14:105325164-105325165	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs2919632	chr14:105325224-105325225	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3001414	chr14:105325234-105325235	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs2919631	chr14:105325237-105325238	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs200462273	chr14:105325265-105325266	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs141265194	chr14:105325283-105325284	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs549917873	chr14:105325326-105325327	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs569933666	chr14:105325401-105325402	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs529501328	chr14:105325433-105325434	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs535773570	chr14:105325469-105325470	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs144577366	chr14:105325503-105325504	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs572308985	chr14:105325520-105325521	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs534414458	chr14:105325566-105325567	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs201951692	chr14:105325655-105325656	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111172815	chr14:105325668-105325669	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs577673052	chr14:105325693-105325694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs375904784	chr14:105325694-105325695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373902628	chr14:105325711-105325712	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543370014	chr14:105325719-105325720	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs376058649	chr14:105325723-105325724	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs369657859	chr14:105325741-105325742	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576306681	chr14:105325786-105325787	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs542151014	chr14:105325827-105325828	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs111063723	chr14:105325831-105325832	Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105311000-105330600	Weak transcription	Right Atrium	heart
2	chr14:105312600-105329000	Weak transcription	HMEC	breast
3	chr14:105313200-105327600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:105318800-105326200	Weak transcription	Pancreas	Pancrea
5	chr14:105319000-105325800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:105320200-105330400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:105321600-105329400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:105322800-105328600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:105322800-105329000	Weak transcription	Fetal Intestine Small	intestine
10	chr14:105323000-105328800	Weak transcription	HepG2	liver
11	chr14:105323200-105327200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:105323200-105328800	Weak transcription	NHEK	skin
13	chr14:105323800-105326200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:105323800-105327400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:105323800-105327400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:105323800-105330200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:105324000-105328800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:105324000-105329600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:105324000-105330800	Weak transcription	Brain Substantia Nigra	brain
20	chr14:105324200-105329000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:105324600-105329000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:105325000-105330200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:105325200-105325400	Enhancers	Spleen	Spleen
24	chr14:105325800-105327800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr14:105325800-105329600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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