Variant report

Variant	esv3343234
Chromosome Location	chr18:14498052-14505650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14501013-14501147	Gliobla	brain:	n/a	n/a
2	CTCF	chr18:14499905-14499942	GM13977	blood:	n/a	n/a
3	CTCF	chr18:14504143-14504240	Medullo	brain:	n/a	n/a
4	POLR2A	chr18:14501137-14501184	A549	lung:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14499446-14499496	HRCEpiC	kidney:	n/a
2	chr18:14499446-14499496	HRCEpiC	kidney:	n/a
3	chr18:14499446-14499496	HCT-116	colon:	n/a
4	chr18:14499446-14499496	HepG2	liver:	n/a
5	chr18:14499446-14499496	AG04450	lung:	fetal
6	chr18:14499446-14499496	HAEpiC	amniotic membrane:	n/a
7	chr18:14499446-14499496	MCF10A-Er-Src	breast:	n/a
8	chr18:14499446-14499496	MCF-7	breast:	n/a
9	chr18:14499446-14499496	HRE	kidney:	n/a
10	chr18:14499446-14499496	Hepatocyte	liver:	n/a
11	chr18:14499446-14499496	SK-N-MC	brain:	n/a
12	chr18:14499446-14499496	A549	lung:	n/a
13	chr18:14499446-14499496	PANC-1	pancreas:	n/a
14	chr18:14499446-14499496	HNPCEpiC	eye:	n/a
15	chr18:14499446-14499496	LNCaP	prostate:	n/a
16	chr18:14499446-14499496	SK-N-SH	brain:	n/a
17	chr18:14499446-14499496	NHBE	bronchial:	n/a
18	chr18:14499446-14499496	HMEC	breast:	n/a
19	chr18:14499446-14499496	SK-N-SH_RA	brain:	n/a
20	chr18:14499446-14499496	CMK	blood:	n/a
21	chr18:14499446-14499496	Caco-2	colon:	n/a
22	chr18:14499446-14499496	AG04449	skin:	fetal
23	chr18:14499446-14499496	AG09319	gingival:	n/a
24	chr18:14499446-14499496	AG09309	skin:	n/a
25	chr18:14499446-14499496	NH-A	brain:	n/a
26	chr18:14499446-14499496	HCPEpiC	choroid plexus:	n/a
27	chr18:14499446-14499496	ProgFib	skin:	n/a
28	chr18:14499446-14499496	NT2-D1	testis:	n/a
29	chr18:14499446-14499496	SKMC	muscle:	n/a
30	chr18:14499446-14499496	BJ	skin:	n/a
31	chr18:14499446-14499496	GM12891	blood:	n/a
32	chr18:14499446-14499496	SAEC	small airway:	n/a
33	chr18:14499446-14499496	HPAEpiC	pulmonary alveolar:	n/a
34	chr18:14499446-14499496	K562	blood:	n/a
35	chr18:14499446-14499496	Jurkat	blood:	n/a
36	chr18:14499446-14499496	NB4	blood:	n/a
37	chr18:14499446-14499496	GM12892	blood:	n/a
38	chr18:14499446-14499496	PrEC	prostate:	n/a
39	chr18:14499446-14499496	AoSMC	blood vessel:	n/a
40	chr18:14499446-14499496	T-47D	breast:	n/a
41	chr18:14499446-14499496	HL-60	blood:	n/a
42	chr18:14499446-14499496	IMR90	lung:	fetal
43	chr18:14499446-14499496	BE2_C	brain:	n/a
44	chr18:14499446-14499496	HRPEpiC	eye:	n/a
45	chr18:14499446-14499496	H1-hESC	embryonic stem cell:	embryo
46	chr18:14499446-14499496	AG10803	skin:	n/a
47	chr18:14499446-14499496	HCM	heart:	n/a
48	chr18:14499446-14499496	HCF	heart:	n/a
49	chr18:14499446-14499496	HUVEC	blood vessel:	n/a
50	chr18:14499446-14499496	HIPEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-1	chr18:14498952-14499277	ENSG00000265766.1
2	lnc-POTEC-1	chr18:14498591-14498705	NR_024076
3	lnc-POTEC-1	chr18:14498591-14498724	ENSG00000265766.1

No data

Variant related genes	Relation type
CXADRP3	TF binding region
CXADRP3	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537641910	chr18:14498638-14498639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs557665463	chr18:14498650-14498651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs571496860	chr18:14498688-14498689	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs533955265	chr18:14498713-14498714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs554094674	chr18:14498714-14498715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs574051989	chr18:14498716-14498717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs28682993	chr18:14498977-14498978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs565458762	chr18:14498993-14498994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs112263768	chr18:14499089-14499090	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs373932617	chr18:14499114-14499115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs113709376	chr18:14499128-14499129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs539859362	chr18:14499251-14499252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs531430909	chr18:14499447-14499448	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs551127062	chr18:14499467-14499468	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs139579328	chr18:14499468-14499469	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs562418410	chr18:14499476-14499477	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs570114253	chr18:14501017-14501018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201862331	chr18:14501035-14501036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558565755	chr18:14501050-14501051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113688796	chr18:14501066-14501067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552675037	chr18:14501069-14501070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141671707	chr18:14501080-14501081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186299834	chr18:14501104-14501105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs60861301	chr18:14501141-14501142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs58663729	chr18:14501149-14501150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113101017	chr18:14501164-14501165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559796234	chr18:14504147-14504148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529078084	chr18:14504166-14504167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs548736093	chr18:14504187-14504188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs568821198	chr18:14504188-14504189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538097621	chr18:14504203-14504204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs182045859	chr18:14504225-14504226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links