Variant report

Variant	esv3379814
Chromosome Location	chr18:14542852-14546050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:427)
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	chr18:14542939-14542976	A549	lung:	n/a	n/a
4	POLR2A	chr18:14543486-14543621	A549	lung:	n/a	n/a
5	REST	chr18:14543464-14543666	PANC-1	pancreas:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14544733-14544783	LNCaP	prostate:	n/a
2	chr18:14543469-14543519	GM12878	blood:	n/a
3	chr18:14543161-14543211	GM12892	blood:	n/a
4	chr18:14543469-14543519	GM06990	blood:	n/a
5	chr18:14545004-14545054	Caco-2	colon:	n/a
6	chr18:14544733-14544783	HCM	heart:	n/a
7	chr18:14543867-14543917	CMK	blood:	n/a
8	chr18:14544733-14544783	HCT-116	colon:	n/a
9	chr18:14543469-14543519	Caco-2	colon:	n/a
10	chr18:14543710-14543760	U87	brain:	n/a
11	chr18:14543867-14543917	NHDF-neo	bronchial:	n/a
12	chr18:14545004-14545054	AoSMC	blood vessel:	n/a
13	chr18:14543161-14543211	GM06990	blood:	n/a
14	chr18:14543867-14543917	HEEpiC	esophagus:	n/a
15	chr18:14543710-14543760	HepG2	liver:	n/a
16	chr18:14545004-14545054	NHDF-neo	bronchial:	n/a
17	chr18:14543710-14543760	GM12892	blood:	n/a
18	chr18:14545004-14545054	ECC-1	luminal epithelium:	n/a
19	chr18:14543710-14543760	PANC-1	pancreas:	n/a
20	chr18:14543469-14543519	HCF	heart:	n/a
21	chr18:14543469-14543519	AG04450	lung:	fetal
22	chr18:14543867-14543917	H1-hESC	embryonic stem cell:	embryo
23	chr18:14543867-14543917	AG09309	skin:	n/a
24	chr18:14544733-14544783	AoSMC	blood vessel:	n/a
25	chr18:14543161-14543211	SK-N-MC	brain:	n/a
26	chr18:14543710-14543760	HIPEpiC	eye:	n/a
27	chr18:14544733-14544783	A549	lung:	n/a
28	chr18:14545004-14545054	NH-A	brain:	n/a
29	chr18:14545004-14545054	AG09319	gingival:	n/a
30	chr18:14543867-14543917	T-47D	breast:	n/a
31	chr18:14543469-14543519	HL-60	blood:	n/a
32	chr18:14545004-14545054	Hela-S3	cervix:	n/a
33	chr18:14543710-14543760	AG04450	lung:	fetal
34	chr18:14545004-14545054	HCPEpiC	choroid plexus:	n/a
35	chr18:14543710-14543760	HRPEpiC	eye:	n/a
36	chr18:14543768-14543818	GM12892	blood:	n/a
37	chr18:14543768-14543818	SK-N-SH_RA	brain:	n/a
38	chr18:14543161-14543211	HIPEpiC	eye:	n/a
39	chr18:14543768-14543818	AoSMC	blood vessel:	n/a
40	chr18:14543161-14543211	HL-60	blood:	n/a
41	chr18:14543469-14543519	IMR90	lung:	fetal
42	chr18:14543867-14543917	HL-60	blood:	n/a
43	chr18:14543710-14543760	BE2_C	brain:	n/a
44	chr18:14543867-14543917	Hepatocyte	liver:	n/a
45	chr18:14543161-14543211	NB4	blood:	n/a
46	chr18:14545004-14545054	GM19239	blood:	n/a
47	chr18:14543768-14543818	AG09319	gingival:	n/a
48	chr18:14543867-14543917	HepG2	liver:	n/a
49	chr18:14543161-14543211	HRCEpiC	kidney:	n/a
50	chr18:14543469-14543519	HCT-116	colon:	n/a

No data

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

Extended variants
information (count: 46 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:46 , 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
22	rs373542002	chr18:14543656-14543657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs572916816	chr18:14543665-14543666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535762963	chr18:14543666-14543667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs376390466	chr18:14543724-14543725	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs369582733	chr18:14543726-14543727	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs575601863	chr18:14543728-14543729	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs544665305	chr18:14543770-14543771	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs373012497	chr18:14543795-14543796	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs377181996	chr18:14543806-14543807	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs140303220	chr18:14543809-14543810	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs578170187	chr18:14543812-14543813	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs370646491	chr18:14543881-14543882	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs560762990	chr18:14543898-14543899	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs529423390	chr18:14543901-14543902	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs538165251	chr18:14544738-14544739	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs558039652	chr18:14544752-14544753	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs571680344	chr18:14544756-14544757	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs533976491	chr18:14544761-14544762	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs200085185	chr18:14544773-14544774	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs554131298	chr18:14544782-14544783	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs62081688	chr18:14545012-14545013	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs62081689	chr18:14545015-14545016	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs181946324	chr18:14545019-14545020	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs201209487	chr18:14545028-14545029	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs539875733	chr18:14545052-14545053	Inactive region	CpG island	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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