Variant report

Variant	rs539875733
Chromosome Location	chr18:14545052-14545053
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14545004-14545054	GM12878	blood:	n/a
2	chr18:14545004-14545054	ECC-1	luminal epithelium:	n/a
3	chr18:14545004-14545054	AG10803	skin:	n/a
4	chr18:14545004-14545054	HCT-116	colon:	n/a
5	chr18:14545004-14545054	MCF-7	breast:	n/a
6	chr18:14545004-14545054	NT2-D1	testis:	n/a
7	chr18:14545004-14545054	ProgFib	skin:	n/a
8	chr18:14545004-14545054	PFSK-1	brain:	n/a
9	chr18:14545004-14545054	HCF	heart:	n/a
10	chr18:14545004-14545054	Jurkat	blood:	n/a
11	chr18:14545004-14545054	HEK293	kidney:	embryo
12	chr18:14545004-14545054	NHDF-neo	bronchial:	n/a
13	chr18:14545004-14545054	LNCaP	prostate:	n/a
14	chr18:14545004-14545054	HUVEC	blood vessel:	n/a
15	chr18:14545004-14545054	HEEpiC	esophagus:	n/a
16	chr18:14545004-14545054	AG04449	skin:	fetal
17	chr18:14545004-14545054	NB4	blood:	n/a
18	chr18:14545004-14545054	HRE	kidney:	n/a
19	chr18:14545004-14545054	AG09309	skin:	n/a
20	chr18:14545004-14545054	GM12892	blood:	n/a
21	chr18:14545004-14545054	HAEpiC	amniotic membrane:	n/a
22	chr18:14545004-14545054	AG09319	gingival:	n/a
23	chr18:14545004-14545054	AoSMC	blood vessel:	n/a
24	chr18:14545004-14545054	CMK	blood:	n/a
25	chr18:14545004-14545054	Hepatocyte	liver:	n/a
26	chr18:14545004-14545054	GM19239	blood:	n/a
27	chr18:14545004-14545054	SK-N-MC	brain:	n/a
28	chr18:14545004-14545054	HCPEpiC	choroid plexus:	n/a
29	chr18:14545004-14545054	NH-A	brain:	n/a
30	chr18:14545004-14545054	HRCEpiC	kidney:	n/a
31	chr18:14545004-14545054	SK-N-SH	brain:	n/a
32	chr18:14545004-14545054	ovcar-3	ovarian:	n/a
33	chr18:14545004-14545054	SKMC	muscle:	n/a
34	chr18:14545004-14545054	A549	lung:	n/a
35	chr18:14545004-14545054	HL-60	blood:	n/a
36	chr18:14545004-14545054	Hela-S3	cervix:	n/a
37	chr18:14545004-14545054	NHBE	bronchial:	n/a
38	chr18:14545004-14545054	HMEC	breast:	n/a
39	chr18:14545004-14545054	T-47D	breast:	n/a
40	chr18:14545004-14545054	SK-N-SH_RA	brain:	n/a
41	chr18:14545004-14545054	IMR90	lung:	fetal
42	chr18:14545004-14545054	AG04450	lung:	fetal
43	chr18:14545004-14545054	H1-hESC	embryonic stem cell:	embryo
44	chr18:14545004-14545054	U87	brain:	n/a
45	chr18:14545004-14545054	HIPEpiC	eye:	n/a
46	chr18:14545004-14545054	GM06990	blood:	n/a
47	chr18:14545004-14545054	GM12891	blood:	n/a
48	chr18:14545004-14545054	BJ	skin:	n/a
49	chr18:14545004-14545054	HRPEpiC	eye:	n/a
50	chr18:14545004-14545054	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
POTEC	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431972	chr18:13804043-14753900	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv428006	chr18:14087067-14874733	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv2757670	chr18:14208563-14558050	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	esv1830864	chr18:14419817-14560183	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1828427	chr18:14430015-14560355	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1828368	chr18:14430215-14560155	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv16841	chr18:14431322-14599321	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1832994	chr18:14431387-14560355	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1793307	chr18:14431679-14550021	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1844581	chr18:14431679-14560155	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv833593	chr18:14432183-14609021	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv9615	chr18:14441576-14609353	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv1796331	chr18:14463225-14560155	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv909428	chr18:14473743-14548204	Enhancers Weak transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv514861	chr18:14477547-14594525	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv909429	chr18:14524300-14603859	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv909430	chr18:14524300-14628542	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv909431	chr18:14524300-14751049	Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv909432	chr18:14526439-14590752	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv510732	chr18:14538883-14567998	Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv3376624	chr18:14542577-14545125	Inactive region	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
23	esv3386266	chr18:14542852-14545750	Inactive region	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
24	esv3379814	chr18:14542852-14546050	Inactive region	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
25	esv3382310	chr18:14544352-14547550	Inactive region	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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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