Variant report

Variant	esv3345117
Chromosome Location	chr14:19368552-19403150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:19392910-19393469	A549	lung:	n/a	n/a
2	CTCF	chr14:19400940-19401090	GM12869	blood:	n/a	n/a
3	CTCF	chr14:19393033-19393400	K562	blood:	n/a	n/a
4	CTCF	chr14:19393115-19393321	LNCaP	prostate:	n/a	n/a
5	CTCF	chr14:19372802-19372819	GM13976	blood:	n/a	n/a
6	CTCF	chr14:19393162-19393281	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr14:19393007-19393424	A549	lung:	n/a	n/a
8	CTCF	chr14:19369828-19369863	GM13976	blood:	n/a	n/a
9	CTCF	chr14:19400520-19400670	GM12869	blood:	n/a	n/a
10	CTCF	chr14:19393010-19393378	A549	lung:	n/a	n/a
11	CTCF	chr14:19379050-19379121	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr14:19393147-19393287	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr14:19393519-19393611	A549	lung:	n/a	n/a
14	CTCF	chr14:19393162-19393294	LNCaP	prostate:	n/a	n/a
15	CTCF	chr14:19393052-19393293	K562	blood:	n/a	n/a
16	CTCF	chr14:19393051-19393418	K562	blood:	n/a	n/a
17	EP300	chr14:19397161-19397334	GM12878	blood:	n/a	n/a
18	FOSL2	chr14:19393004-19393309	HepG2	liver:	n/a	n/a
19	FOSL2	chr14:19373688-19374019	HepG2	liver:	n/a	chr14:19373901-19373910 chr14:19373964-19373973
20	FOSL2	chr14:19391896-19392284	HepG2	liver:	n/a	n/a
21	IRF4	chr14:19373629-19373906	GM12878	blood:	n/a	n/a
22	JUND	chr14:19390887-19391068	HepG2	liver:	n/a	chr14:19391047-19391059
23	JUND	chr14:19398935-19399113	HepG2	liver:	n/a	n/a
24	JUND	chr14:19392823-19393037	HepG2	liver:	n/a	n/a
25	JUND	chr14:19393064-19393323	HepG2	liver:	n/a	n/a
26	JUND	chr14:19393082-19393262	HepG2	liver:	n/a	n/a
27	PAX5	chr14:19389281-19389438	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:19402283-19402499	A549	lung:	n/a	n/a
29	POLR2A	chr14:19402903-19403352	H1-hESC	embryonic stem cell:	n/a	n/a
30	POU2F2	chr14:19392795-19393146	GM12878	blood:	n/a	n/a
31	POU2F2	chr14:19373668-19374003	GM12878	blood:	n/a	n/a
32	RXRA	chr14:19392725-19393389	HepG2	liver:	n/a	n/a
33	RXRA	chr14:19381924-19382139	HepG2	liver:	n/a	n/a
34	RXRA	chr14:19390753-19391217	HepG2	liver:	n/a	n/a
35	RXRA	chr14:19389283-19389526	HepG2	liver:	n/a	n/a
36	RXRA	chr14:19373570-19373780	HepG2	liver:	n/a	chr14:19373666-19373675
37	RXRA	chr14:19400297-19400681	HepG2	liver:	n/a	n/a
38	RXRA	chr14:19393080-19393324	HepG2	liver:	n/a	n/a
39	SIX5	chr14:19397158-19397368	K562	blood:	n/a	n/a
40	SIX5	chr14:19392938-19393213	K562	blood:	n/a	n/a
41	SP1	chr14:19392406-19392788	HepG2	liver:	n/a	n/a
42	SP1	chr14:19400119-19400391	HepG2	liver:	n/a	n/a
43	SP1	chr14:19391713-19392055	GM12878	blood:	n/a	n/a
44	USF1	chr14:19399025-19399149	HepG2	liver:	n/a	n/a
45	USF1	chr14:19394275-19394413	HepG2	liver:	n/a	n/a
46	USF1	chr14:19389718-19389868	HepG2	liver:	n/a	n/a
47	ZBTB33	chr14:19398901-19399139	HepG2	liver:	n/a	n/a
48	ZBTB33	chr14:19392575-19392891	HepG2	liver:	n/a	n/a
49	ZBTB33	chr14:19375016-19375143	HepG2	liver:	n/a	n/a
50	ZBTB33	chr14:19397430-19397678	HepG2	liver:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19402845-19402895	HCPEpiC	choroid plexus:	n/a
2	chr14:19402845-19402895	HCPEpiC	choroid plexus:	n/a
3	chr14:19377109-19377159	AG09319	gingival:	n/a
4	chr14:19402845-19402895	AG10803	skin:	n/a
5	chr14:19377109-19377159	HCM	heart:	n/a
6	chr14:19402845-19402895	ovcar-3	ovarian:	n/a
7	chr14:19377109-19377159	BJ	skin:	n/a
8	chr14:19377109-19377159	ProgFib	skin:	n/a
9	chr14:19402845-19402895	SK-N-SH_RA	brain:	n/a
10	chr14:19377109-19377159	SK-N-SH	brain:	n/a
11	chr14:19402845-19402895	HEEpiC	esophagus:	n/a
12	chr14:19377109-19377159	AoSMC	blood vessel:	n/a
13	chr14:19377109-19377159	NHDF-neo	bronchial:	n/a
14	chr14:19402845-19402895	HIPEpiC	eye:	n/a
15	chr14:19377109-19377159	AG04450	lung:	fetal
16	chr14:19377109-19377159	PrEC	prostate:	n/a
17	chr14:19377109-19377159	A549	lung:	n/a
18	chr14:19377109-19377159	HAEpiC	amniotic membrane:	n/a
19	chr14:19402845-19402895	GM12878	blood:	n/a
20	chr14:19377109-19377159	ovcar-3	ovarian:	n/a
21	chr14:19402845-19402895	GM12892	blood:	n/a
22	chr14:19377109-19377159	Hepatocyte	liver:	n/a
23	chr14:19377109-19377159	HRPEpiC	eye:	n/a
24	chr14:19377109-19377159	HEEpiC	esophagus:	n/a
25	chr14:19377109-19377159	MCF10A-Er-Src	breast:	n/a
26	chr14:19402845-19402895	A549	lung:	n/a
27	chr14:19377109-19377159	Caco-2	colon:	n/a
28	chr14:19402845-19402895	GM06990	blood:	n/a
29	chr14:19377109-19377159	HCT-116	colon:	n/a
30	chr14:19377109-19377159	NB4	blood:	n/a
31	chr14:19377109-19377159	HCPEpiC	choroid plexus:	n/a
32	chr14:19402845-19402895	HCF	heart:	n/a
33	chr14:19402845-19402895	PANC-1	pancreas:	n/a
34	chr14:19402845-19402895	HRPEpiC	eye:	n/a
35	chr14:19377109-19377159	CMK	blood:	n/a
36	chr14:19377109-19377159	SK-N-SH_RA	brain:	n/a
37	chr14:19377109-19377159	AG10803	skin:	n/a
38	chr14:19402845-19402895	AG04450	lung:	fetal
39	chr14:19377109-19377159	NT2-D1	testis:	n/a
40	chr14:19377109-19377159	HPAEpiC	pulmonary alveolar:	n/a
41	chr14:19402845-19402895	NH-A	brain:	n/a
42	chr14:19377109-19377159	GM06990	blood:	n/a
43	chr14:19402845-19402895	Jurkat	blood:	n/a
44	chr14:19402845-19402895	NT2-D1	testis:	n/a
45	chr14:19377109-19377159	GM19239	blood:	n/a
46	chr14:19377109-19377159	RPTEC	kidney:	n/a
47	chr14:19377109-19377159	HCF	heart:	n/a
48	chr14:19402845-19402895	SKMC	muscle:	n/a
49	chr14:19402845-19402895	GM19239	blood:	n/a
50	chr14:19402845-19402895	Hela-S3	cervix:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEM-10	chr14:19372736-19372787	ENSG00000257959.1

No data

Variant related genes	Relation type
ENSG00000257825	TF binding region
ENSG00000257959	TF binding region
ENSG00000257672	TF binding region
ENSG00000257644	TF binding region
OR11H12	TF binding region
ENSG00000257825	CpG island
ENSG00000257959	CpG island
ENSG00000257672	CpG island
ENSG00000257644	CpG island
OR11H12	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199770506	chr14:19373645-19373646	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs61969148	chr14:19373916-19373917	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs145459725	chr14:19373981-19373982	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs140080877	chr14:19373992-19373993	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs145696616	chr14:19373995-19373996	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs541072283	chr14:19375025-19375026	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs200075830	chr14:19389307-19389308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs572276773	chr14:19389450-19389451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs61969997	chr14:19389462-19389463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539695307	chr14:19389480-19389481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs61969998	chr14:19389487-19389488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs199576637	chr14:19389729-19389730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200610431	chr14:19389738-19389739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573626430	chr14:19390774-19390775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs74580404	chr14:19390824-19390825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541135598	chr14:19390842-19390843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs77704721	chr14:19390843-19390844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201890645	chr14:19390848-19390849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs527876486	chr14:19390849-19390850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200646044	chr14:19403090-19403091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs537628062	chr14:19403094-19403095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20932292	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	17142309	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	20369283	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Incontinentia Pigmenti	22033527	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ependymoma	20639864	CNVD
Williams Syndrome	20824207	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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