Variant report

Variant	esv3351333
Chromosome Location	chr14:105577857-105581255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105581043-105581093	Caco-2	colon:	n/a
2	chr14:105581043-105581093	SK-N-MC	brain:	n/a
3	chr14:105581043-105581093	GM12878	blood:	n/a
4	chr14:105581043-105581093	SK-N-SH	brain:	n/a
5	chr14:105581043-105581093	K562	blood:	n/a
6	chr14:105581043-105581093	H1-hESC	embryonic stem cell:	embryo
7	chr14:105581043-105581093	HUVEC	blood vessel:	n/a
8	chr14:105581043-105581093	IMR90	lung:	fetal
9	chr14:105581043-105581093	NT2-D1	testis:	n/a
10	chr14:105581043-105581093	ProgFib	skin:	n/a
11	chr14:105581043-105581093	GM06990	blood:	n/a
12	chr14:105581043-105581093	HCF	heart:	n/a
13	chr14:105581043-105581093	HRPEpiC	eye:	n/a
14	chr14:105581043-105581093	HAEpiC	amniotic membrane:	n/a
15	chr14:105581043-105581093	HepG2	liver:	n/a
16	chr14:105581043-105581093	ECC-1	luminal epithelium:	n/a
17	chr14:105581043-105581093	LNCaP	prostate:	n/a
18	chr14:105581043-105581093	NHDF-neo	bronchial:	n/a
19	chr14:105581043-105581093	HRCEpiC	kidney:	n/a
20	chr14:105581043-105581093	NB4	blood:	n/a
21	chr14:105581043-105581093	HL-60	blood:	n/a
22	chr14:105581043-105581093	ovcar-3	ovarian:	n/a
23	chr14:105581043-105581093	GM19239	blood:	n/a
24	chr14:105581043-105581093	AG09319	gingival:	n/a
25	chr14:105581043-105581093	PrEC	prostate:	n/a
26	chr14:105581043-105581093	MCF-7	breast:	n/a
27	chr14:105581043-105581093	SAEC	small airway:	n/a
28	chr14:105581043-105581093	HIPEpiC	eye:	n/a
29	chr14:105581043-105581093	AG04449	skin:	fetal
30	chr14:105581043-105581093	HEEpiC	esophagus:	n/a
31	chr14:105581043-105581093	GM12892	blood:	n/a
32	chr14:105581043-105581093	PFSK-1	brain:	n/a
33	chr14:105581043-105581093	RPTEC	kidney:	n/a
34	chr14:105581043-105581093	A549	lung:	n/a
35	chr14:105581043-105581093	HCT-116	colon:	n/a
36	chr14:105581043-105581093	GM12891	blood:	n/a
37	chr14:105581043-105581093	BE2_C	brain:	n/a
38	chr14:105581043-105581093	Jurkat	blood:	n/a
39	chr14:105581043-105581093	HEK293	kidney:	embryo
40	chr14:105581043-105581093	HNPCEpiC	eye:	n/a
41	chr14:105581043-105581093	PANC-1	pancreas:	n/a
42	chr14:105581043-105581093	U87	brain:	n/a
43	chr14:105581043-105581093	AG09309	skin:	n/a
44	chr14:105581043-105581093	Hela-S3	cervix:	n/a
45	chr14:105581043-105581093	MCF10A-Er-Src	breast:	n/a
46	chr14:105581043-105581093	SKMC	muscle:	n/a
47	chr14:105581043-105581093	AG10803	skin:	n/a
48	chr14:105581043-105581093	BJ	skin:	n/a
49	chr14:105581043-105581093	HCPEpiC	choroid plexus:	n/a
50	chr14:105581043-105581093	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105571300..105574874-chr14:105580786..105584672,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258154	CpG island

Extended variants
information (count: 103 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9671283	chr14:105577880-105577881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113640028	chr14:105578205-105578206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112845048	chr14:105578254-105578255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112519183	chr14:105578370-105578371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368435256	chr14:105578455-105578456	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs111245782	chr14:105578459-105578460	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369885480	chr14:105578508-105578509	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371809447	chr14:105578597-105578598	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376052949	chr14:105578667-105578668	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7160079	chr14:105578771-105578772	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12050241	chr14:105578782-105578783	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7160102	chr14:105578810-105578811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7160335	chr14:105579084-105579085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55742612	chr14:105579356-105579357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151295382	chr14:105579370-105579371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587744839	chr14:105579436-105579437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199556132	chr14:105579580-105579581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200669051	chr14:105579582-105579583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117228222	chr14:105579600-105579601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202037373	chr14:105579622-105579623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202071280	chr14:105579624-105579625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201408788	chr14:105579637-105579638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114625693	chr14:105579642-105579643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200976279	chr14:105579648-105579649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183143226	chr14:105579672-105579673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587676657	chr14:105579698-105579699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187474905	chr14:105579714-105579715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140517950	chr14:105579740-105579741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10143028	chr14:105579742-105579743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs587776099	chr14:105579761-105579762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587639059	chr14:105579793-105579794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587723209	chr14:105579806-105579807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112932702	chr14:105579807-105579808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587654614	chr14:105579854-105579855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192661426	chr14:105579870-105579871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10142976	chr14:105579902-105579903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs587663275	chr14:105579903-105579904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183357912	chr14:105579908-105579909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142346230	chr14:105579924-105579925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587665622	chr14:105579935-105579936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587757981	chr14:105579941-105579942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75965215	chr14:105579942-105579943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398118609	chr14:105579951-105579952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111586795	chr14:105579960-105579961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587766970	chr14:105579963-105579964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147067906	chr14:105579964-105579965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201249892	chr14:105580066-105580067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376814814	chr14:105580107-105580108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587727193	chr14:105580109-105580110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188874450	chr14:105580111-105580112	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	chr14:105576400-105581200	Weak transcription	Esophagus	oesophagus
2	chr14:105578400-105578800	Active TSS	HSMM	muscle
3	chr14:105581000-105581800	Enhancers	NHEK	skin
4	chr14:105581200-105582200	Enhancers	Esophagus	oesophagus

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