Variant report

Variant	rs554754797
Chromosome Location	chr18:14378869-14378870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
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	POLR2A	chr18:14378397-14378958	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14378826-14378876	HNPCEpiC	eye:	n/a
2	chr18:14378826-14378876	HPAEpiC	pulmonary alveolar:	n/a
3	chr18:14378826-14378876	SK-N-MC	brain:	n/a
4	chr18:14378826-14378876	HepG2	liver:	n/a
5	chr18:14378826-14378876	T-47D	breast:	n/a
6	chr18:14378826-14378876	GM12878	blood:	n/a
7	chr18:14378826-14378876	ovcar-3	ovarian:	n/a
8	chr18:14378826-14378876	HEK293	kidney:	embryo
9	chr18:14378826-14378876	BE2_C	brain:	n/a
10	chr18:14378826-14378876	GM19239	blood:	n/a
11	chr18:14378826-14378876	U87	brain:	n/a
12	chr18:14378826-14378876	AG09319	gingival:	n/a
13	chr18:14378826-14378876	BJ	skin:	n/a
14	chr18:14378826-14378876	HEEpiC	esophagus:	n/a
15	chr18:14378826-14378876	AoSMC	blood vessel:	n/a
16	chr18:14378826-14378876	NB4	blood:	n/a
17	chr18:14378826-14378876	ECC-1	luminal epithelium:	n/a
18	chr18:14378826-14378876	SAEC	small airway:	n/a
19	chr18:14378826-14378876	HIPEpiC	eye:	n/a
20	chr18:14378826-14378876	HL-60	blood:	n/a
21	chr18:14378826-14378876	HMEC	breast:	n/a
22	chr18:14378826-14378876	A549	lung:	n/a
23	chr18:14378826-14378876	AG04449	skin:	fetal
24	chr18:14378826-14378876	AG04450	lung:	fetal
25	chr18:14378826-14378876	HCPEpiC	choroid plexus:	n/a
26	chr18:14378826-14378876	IMR90	lung:	fetal
27	chr18:14378826-14378876	HRPEpiC	eye:	n/a
28	chr18:14378826-14378876	HCF	heart:	n/a
29	chr18:14378826-14378876	HUVEC	blood vessel:	n/a
30	chr18:14378826-14378876	NHBE	bronchial:	n/a
31	chr18:14378826-14378876	GM12891	blood:	n/a
32	chr18:14378826-14378876	NHDF-neo	bronchial:	n/a
33	chr18:14378826-14378876	GM12892	blood:	n/a
34	chr18:14378826-14378876	MCF-7	breast:	n/a
35	chr18:14378826-14378876	SK-N-SH	brain:	n/a
36	chr18:14378826-14378876	PrEC	prostate:	n/a
37	chr18:14378826-14378876	HRE	kidney:	n/a
38	chr18:14378826-14378876	HAEpiC	amniotic membrane:	n/a
39	chr18:14378826-14378876	Caco-2	colon:	n/a
40	chr18:14378826-14378876	RPTEC	kidney:	n/a
41	chr18:14378826-14378876	Hepatocyte	liver:	n/a
42	chr18:14378826-14378876	AG10803	skin:	n/a
43	chr18:14378826-14378876	CMK	blood:	n/a
44	chr18:14378826-14378876	SKMC	muscle:	n/a
45	chr18:14378826-14378876	GM06990	blood:	n/a
46	chr18:14378826-14378876	PANC-1	pancreas:	n/a
47	chr18:14378826-14378876	ProgFib	skin:	n/a
48	chr18:14378826-14378876	SK-N-SH_RA	brain:	n/a
49	chr18:14378826-14378876	Hela-S3	cervix:	n/a
50	chr18:14378826-14378876	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
TERF1P2	TF binding region
TERF1P2	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3424951	chr18:14078056-14428049	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	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
4	nsv576531	chr18:14105923-14540310	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv909422	chr18:14180547-14429096	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv909424	chr18:14196965-14445897	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
7	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
8	nsv960658	chr18:14362871-14430233	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14378800-14379800	Enhancers	Dnd41	blood

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