Variant report

Variant	esv3335597
Chromosome Location	chr18:14539652-14543650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14542934-14542970	Fibrobl	skin:	n/a	n/a
2	MYC	chr18:14543583-14543670	MCF-7	breast:	n/a	n/a
3	POLR2A	chr18:14543486-14543621	A549	lung:	n/a	n/a
4	POLR2A	chr18:14542939-14542976	A549	lung:	n/a	n/a
5	REST	chr18:14543464-14543666	PANC-1	pancreas:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14543469-14543519	HPAEpiC	pulmonary alveolar:	n/a
2	chr18:14543469-14543519	MCF10A-Er-Src	breast:	n/a
3	chr18:14543161-14543211	K562	blood:	n/a
4	chr18:14543469-14543519	PrEC	prostate:	n/a
5	chr18:14543161-14543211	CMK	blood:	n/a
6	chr18:14543469-14543519	CMK	blood:	n/a
7	chr18:14543469-14543519	NH-A	brain:	n/a
8	chr18:14543469-14543519	HCPEpiC	choroid plexus:	n/a
9	chr18:14543161-14543211	AG09309	skin:	n/a
10	chr18:14543161-14543211	LNCaP	prostate:	n/a
11	chr18:14543161-14543211	AG09319	gingival:	n/a
12	chr18:14543161-14543211	NT2-D1	testis:	n/a
13	chr18:14543469-14543519	HIPEpiC	eye:	n/a
14	chr18:14543161-14543211	Hepatocyte	liver:	n/a
15	chr18:14543161-14543211	SK-N-MC	brain:	n/a
16	chr18:14543469-14543519	GM12891	blood:	n/a
17	chr18:14543469-14543519	Caco-2	colon:	n/a
18	chr18:14543161-14543211	SK-N-SH_RA	brain:	n/a
19	chr18:14543469-14543519	ECC-1	luminal epithelium:	n/a
20	chr18:14543469-14543519	SK-N-SH	brain:	n/a
21	chr18:14543469-14543519	NHDF-neo	bronchial:	n/a
22	chr18:14543161-14543211	HRCEpiC	kidney:	n/a
23	chr18:14543469-14543519	IMR90	lung:	fetal
24	chr18:14543161-14543211	HMEC	breast:	n/a
25	chr18:14543469-14543519	AoSMC	blood vessel:	n/a
26	chr18:14543469-14543519	NB4	blood:	n/a
27	chr18:14543469-14543519	GM19239	blood:	n/a
28	chr18:14543469-14543519	PFSK-1	brain:	n/a
29	chr18:14543469-14543519	AG04450	lung:	fetal
30	chr18:14543161-14543211	PFSK-1	brain:	n/a
31	chr18:14543161-14543211	RPTEC	kidney:	n/a
32	chr18:14543161-14543211	AG10803	skin:	n/a
33	chr18:14543161-14543211	ovcar-3	ovarian:	n/a
34	chr18:14543469-14543519	Jurkat	blood:	n/a
35	chr18:14543469-14543519	NHBE	bronchial:	n/a
36	chr18:14543161-14543211	GM12891	blood:	n/a
37	chr18:14543469-14543519	ProgFib	skin:	n/a
38	chr18:14543161-14543211	HNPCEpiC	eye:	n/a
39	chr18:14543469-14543519	AG09309	skin:	n/a
40	chr18:14543161-14543211	IMR90	lung:	fetal
41	chr18:14543469-14543519	Hela-S3	cervix:	n/a
42	chr18:14543469-14543519	HCF	heart:	n/a
43	chr18:14543161-14543211	Caco-2	colon:	n/a
44	chr18:14543469-14543519	HRPEpiC	eye:	n/a
45	chr18:14543161-14543211	SAEC	small airway:	n/a
46	chr18:14543161-14543211	U87	brain:	n/a
47	chr18:14543469-14543519	GM12892	blood:	n/a
48	chr18:14543469-14543519	HEEpiC	esophagus:	n/a
49	chr18:14543469-14543519	HAEpiC	amniotic membrane:	n/a
50	chr18:14543469-14543519	AG09319	gingival:	n/a

No data

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

Extended variants
information (count: 21 )
Associated
traits (count: 53 )

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	rs45446896	chr18:14543161-14543162	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs367913261	chr18:14543162-14543163	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs536773906	chr18:14543163-14543164	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs370435544	chr18:14543164-14543165	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs374959733	chr18:14543181-14543182	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs372286696	chr18:14543477-14543478	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs529609618	chr18:14543491-14543492	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs56077734	chr18:14543504-14543505	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568049288	chr18:14543512-14543513	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs200162188	chr18:14543528-14543529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113330263	chr18:14543560-14543561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550149729	chr18:14543568-14543569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs202020811	chr18:14543570-14543571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112098966	chr18:14543571-14543572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570257469	chr18:14543576-14543577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539123907	chr18:14543577-14543578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112757192	chr18:14543581-14543582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs535268341	chr18:14543583-14543584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs141691480	chr18:14543600-14543601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375092187	chr18:14543631-14543632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369121647	chr18:14543633-14543634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Medulloblastoma	21163964	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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