Variant report

Variant	esv3382310
Chromosome Location	chr18:14544352-14547550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
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	CTCF	chr18:14546145-14546185	GM13976	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14545004-14545054	SAEC	small airway:	n/a
2	chr18:14545004-14545054	NT2-D1	testis:	n/a
3	chr18:14545004-14545054	HMEC	breast:	n/a
4	chr18:14544733-14544783	HEEpiC	esophagus:	n/a
5	chr18:14544733-14544783	GM12878	blood:	n/a
6	chr18:14545004-14545054	ProgFib	skin:	n/a
7	chr18:14545004-14545054	HCM	heart:	n/a
8	chr18:14544733-14544783	A549	lung:	n/a
9	chr18:14544733-14544783	HPAEpiC	pulmonary alveolar:	n/a
10	chr18:14545004-14545054	HCF	heart:	n/a
11	chr18:14545004-14545054	CMK	blood:	n/a
12	chr18:14544733-14544783	HRPEpiC	eye:	n/a
13	chr18:14544733-14544783	T-47D	breast:	n/a
14	chr18:14545004-14545054	GM12878	blood:	n/a
15	chr18:14545004-14545054	SK-N-SH	brain:	n/a
16	chr18:14545004-14545054	AG10803	skin:	n/a
17	chr18:14544733-14544783	SK-N-MC	brain:	n/a
18	chr18:14544733-14544783	SK-N-SH	brain:	n/a
19	chr18:14544733-14544783	K562	blood:	n/a
20	chr18:14544733-14544783	HMEC	breast:	n/a
21	chr18:14545004-14545054	AG04450	lung:	fetal
22	chr18:14544733-14544783	AG09319	gingival:	n/a
23	chr18:14544733-14544783	HEK293	kidney:	embryo
24	chr18:14544733-14544783	NHBE	bronchial:	n/a
25	chr18:14544733-14544783	ECC-1	luminal epithelium:	n/a
26	chr18:14544733-14544783	AG09309	skin:	n/a
27	chr18:14544733-14544783	SAEC	small airway:	n/a
28	chr18:14544733-14544783	PrEC	prostate:	n/a
29	chr18:14544733-14544783	HRCEpiC	kidney:	n/a
30	chr18:14544733-14544783	HNPCEpiC	eye:	n/a
31	chr18:14545004-14545054	GM19239	blood:	n/a
32	chr18:14544733-14544783	Jurkat	blood:	n/a
33	chr18:14544733-14544783	LNCaP	prostate:	n/a
34	chr18:14545004-14545054	HRCEpiC	kidney:	n/a
35	chr18:14545004-14545054	Hela-S3	cervix:	n/a
36	chr18:14545004-14545054	GM06990	blood:	n/a
37	chr18:14545004-14545054	HepG2	liver:	n/a
38	chr18:14545004-14545054	AG09309	skin:	n/a
39	chr18:14545004-14545054	GM12891	blood:	n/a
40	chr18:14544733-14544783	GM12891	blood:	n/a
41	chr18:14544733-14544783	GM06990	blood:	n/a
42	chr18:14544733-14544783	U87	brain:	n/a
43	chr18:14545004-14545054	NB4	blood:	n/a
44	chr18:14544733-14544783	HUVEC	blood vessel:	n/a
45	chr18:14545004-14545054	HAEpiC	amniotic membrane:	n/a
46	chr18:14545004-14545054	SK-N-SH_RA	brain:	n/a
47	chr18:14544733-14544783	AG04449	skin:	fetal
48	chr18:14545004-14545054	NH-A	brain:	n/a
49	chr18:14545004-14545054	PFSK-1	brain:	n/a
50	chr18:14544733-14544783	SKMC	muscle:	n/a

No data

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

Extended variants
information (count: 12 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538165251	chr18:14544738-14544739	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs558039652	chr18:14544752-14544753	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs571680344	chr18:14544756-14544757	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs533976491	chr18:14544761-14544762	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs200085185	chr18:14544773-14544774	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs554131298	chr18:14544782-14544783	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs62081688	chr18:14545012-14545013	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs62081689	chr18:14545015-14545016	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs181946324	chr18:14545019-14545020	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs201209487	chr18:14545028-14545029	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs539875733	chr18:14545052-14545053	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs369734215	chr18:14546163-14546164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

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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