Variant report

Variant	esv3517715
Chromosome Location	chr14:105576246-105579684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr14:105577201-105577511	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105576362-105576412	NHBE	bronchial:	n/a
2	chr14:105576362-105576412	HCPEpiC	choroid plexus:	n/a
3	chr14:105576362-105576412	GM12878	blood:	n/a
4	chr14:105576362-105576412	T-47D	breast:	n/a
5	chr14:105576362-105576412	HEK293	kidney:	embryo
6	chr14:105576362-105576412	HL-60	blood:	n/a
7	chr14:105576362-105576412	GM12891	blood:	n/a
8	chr14:105576362-105576412	AG09319	gingival:	n/a
9	chr14:105576362-105576412	HEEpiC	esophagus:	n/a
10	chr14:105576362-105576412	HCM	heart:	n/a
11	chr14:105576362-105576412	HCF	heart:	n/a
12	chr14:105576362-105576412	IMR90	lung:	fetal
13	chr14:105576362-105576412	MCF10A-Er-Src	breast:	n/a
14	chr14:105576362-105576412	HAEpiC	amniotic membrane:	n/a
15	chr14:105576362-105576412	U87	brain:	n/a
16	chr14:105576362-105576412	CMK	blood:	n/a
17	chr14:105576362-105576412	AG04450	lung:	fetal
18	chr14:105576362-105576412	PFSK-1	brain:	n/a
19	chr14:105576362-105576412	GM12892	blood:	n/a
20	chr14:105576362-105576412	AoSMC	blood vessel:	n/a
21	chr14:105576362-105576412	LNCaP	prostate:	n/a
22	chr14:105576362-105576412	RPTEC	kidney:	n/a
23	chr14:105576362-105576412	PrEC	prostate:	n/a
24	chr14:105576362-105576412	Caco-2	colon:	n/a
25	chr14:105576362-105576412	NT2-D1	testis:	n/a
26	chr14:105576362-105576412	HRE	kidney:	n/a
27	chr14:105576362-105576412	SK-N-SH	brain:	n/a
28	chr14:105576362-105576412	HMEC	breast:	n/a
29	chr14:105576362-105576412	SKMC	muscle:	n/a
30	chr14:105576362-105576412	HRPEpiC	eye:	n/a
31	chr14:105576362-105576412	HNPCEpiC	eye:	n/a
32	chr14:105576362-105576412	HUVEC	blood vessel:	n/a
33	chr14:105576362-105576412	Hela-S3	cervix:	n/a
34	chr14:105576362-105576412	HCT-116	colon:	n/a
35	chr14:105576362-105576412	SAEC	small airway:	n/a
36	chr14:105576362-105576412	ECC-1	luminal epithelium:	n/a
37	chr14:105576362-105576412	GM06990	blood:	n/a
38	chr14:105576362-105576412	HRCEpiC	kidney:	n/a
39	chr14:105576362-105576412	BJ	skin:	n/a
40	chr14:105576362-105576412	AG04449	skin:	fetal
41	chr14:105576362-105576412	GM19239	blood:	n/a
42	chr14:105576362-105576412	NH-A	brain:	n/a
43	chr14:105576362-105576412	ProgFib	skin:	n/a
44	chr14:105576362-105576412	AG10803	skin:	n/a
45	chr14:105576362-105576412	ovcar-3	ovarian:	n/a
46	chr14:105576362-105576412	HPAEpiC	pulmonary alveolar:	n/a
47	chr14:105576362-105576412	H1-hESC	embryonic stem cell:	embryo
48	chr14:105576362-105576412	NB4	blood:	n/a
49	chr14:105576362-105576412	SK-N-MC	brain:	n/a
50	chr14:105576362-105576412	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000258154	TF binding region
ENSG00000258154	CpG island

Extended variants
information (count: 74 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587680697	chr14:105576248-105576249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181837083	chr14:105576249-105576250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587594750	chr14:105576250-105576251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587663631	chr14:105576288-105576289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143116629	chr14:105576340-105576341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587600155	chr14:105576341-105576342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72705782	chr14:105576363-105576364	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185244389	chr14:105576388-105576389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587730181	chr14:105576404-105576405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587632634	chr14:105576419-105576420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146638568	chr14:105576447-105576448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190786643	chr14:105576455-105576456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116106383	chr14:105576468-105576469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182636767	chr14:105576479-105576480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587691390	chr14:105576484-105576485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587752962	chr14:105576548-105576549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186435970	chr14:105576562-105576563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149215973	chr14:105576574-105576575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587773894	chr14:105576586-105576587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191318159	chr14:105576601-105576602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142430950	chr14:105576604-105576605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587631755	chr14:105576618-105576619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587646228	chr14:105576620-105576621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200195950	chr14:105576664-105576665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201839604	chr14:105576671-105576672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200322014	chr14:105576674-105576675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71403259	chr14:105576678-105576679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138865227	chr14:105576679-105576680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376809049	chr14:105576681-105576682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60715768	chr14:105576683-105576684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376615736	chr14:105576684-105576685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199544466	chr14:105576686-105576687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201246269	chr14:105576687-105576688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56705948	chr14:105576688-105576689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367619058	chr14:105576690-105576691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76840004	chr14:105576691-105576692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587734762	chr14:105576692-105576693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8020975	chr14:105576694-105576695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs56872626	chr14:105576800-105576801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587665264	chr14:105576871-105576872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11489887	chr14:105576898-105576899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112031526	chr14:105576984-105576985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113637233	chr14:105577021-105577022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8021700	chr14:105577099-105577100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11489888	chr14:105577125-105577126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112755295	chr14:105577327-105577328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187836569	chr14:105577374-105577375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540733407	chr14:105577534-105577535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113184954	chr14:105577774-105577775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9671283	chr14:105577880-105577881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105574000-105576800	Weak transcription	Right Atrium	heart
2	chr14:105576200-105576400	Enhancers	Esophagus	oesophagus
3	chr14:105576400-105581200	Weak transcription	Esophagus	oesophagus
4	chr14:105578400-105578800	Active TSS	HSMM	muscle

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