Variant report

Variant	rs13427255
Chromosome Location	chr2:234222984-234222985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234222920-234223070	GM12871	blood:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234222936-234222949 chr2:234223024-234223032
2	CTCF	chr2:234222940-234223090	HMEC	breast:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
3	CTCF	chr2:234222982-234223085	MCF-7	breast:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
4	CTCF	chr2:234222966-234223269	MCF-7	breast:	n/a	chr2:234223218-234223236 chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223221-234223229 chr2:234223024-234223032
5	RAD21	chr2:234222895-234223245	H1-hESC	embryonic stem cell:	n/a	chr2:234223020-234223039 chr2:234223219-234223238 chr2:234223035-234223049 chr2:234223024-234223033 chr2:234223037-234223051 chr2:234223025-234223037 chr2:234223022-234223029
6	CTCF	chr2:234222940-234223090	SK-N-SH_RA	brain:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
7	CTCF	chr2:234222940-234223090	GM12868	blood:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
8	CTCF	chr2:234222973-234223097	MCF-7	breast:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
9	CTCF	chr2:234222980-234223130	GM06990	blood:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
10	CTCF	chr2:234222909-234223097	HepG2	liver:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234222936-234222949 chr2:234223024-234223032
11	ESR1	chr2:234222855-234223552	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr2:234222940-234223090	GM12875	blood:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
13	CTCF	chr2:234222940-234223090	WERI-Rb-1	eye:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
14	ESR1	chr2:234222978-234223442	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr2:234222860-234223010	GM12867	blood:	n/a	chr2:234222936-234222949
16	ESR1	chr2:234222936-234223599	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr2:234222960-234223110	HepG2	liver:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
18	RAD21	chr2:234222879-234223328	HepG2	liver:	n/a	chr2:234223020-234223039 chr2:234223219-234223238 chr2:234223035-234223049 chr2:234223024-234223033 chr2:234223037-234223051 chr2:234223025-234223037 chr2:234223022-234223029
19	CTCF	chr2:234222960-234223110	MCF-7	breast:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
20	CTCF	chr2:234222970-234223098	H1-hESC	embryonic stem cell:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223024-234223032
21	CTCF	chr2:234222920-234223070	GM12872	blood:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234222936-234222949 chr2:234223024-234223032
22	CTCF	chr2:234222900-234223050	GM12866	blood:	n/a	chr2:234223019-234223037 chr2:234223021-234223042 chr2:234222936-234222949 chr2:234223024-234223032
23	CTCF	chr2:234222968-234223274	MCF-7	breast:	n/a	chr2:234223218-234223236 chr2:234223019-234223037 chr2:234223021-234223042 chr2:234223221-234223229 chr2:234223024-234223032

Variant related genes	Relation type
SAG	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13386783	0.85[AMR][1000 genomes]
rs13409759	0.85[AMR][1000 genomes]
rs60212745	0.85[AMR][1000 genomes]
rs73110050	0.85[AMR][1000 genomes]
rs73112047	0.85[AMR][1000 genomes]
rs73114277	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234221400-234223400	Weak transcription	Pancreas	Pancrea
2	chr2:234222000-234223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:234222200-234230200	Weak transcription	GM12878-XiMat	blood
4	chr2:234222600-234226000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:234222600-234229800	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links