Variant report

Variant	rs11063125
Chromosome Location	chr12:4492683-4492684
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	chr12:4492560-4492710	GM12869	blood:	n/a	n/a
2	CTCF	chr12:4492560-4492710	WERI-Rb-1	eye:	n/a	n/a
3	RAD21	chr12:4492504-4492786	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr12:4492522-4492736	GM12878	blood:	n/a	n/a
5	CTCF	chr12:4492404-4492844	H1-hESC	embryonic stem cell:	n/a	chr12:4492456-4492464
6	CTCF	chr12:4492600-4492750	GM12871	blood:	n/a	n/a
7	CTCF	chr12:4492488-4492776	K562	blood:	n/a	n/a
8	ZNF143	chr12:4492475-4492851	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:4492560-4492710	GM06990	blood:	n/a	n/a
10	RAD21	chr12:4492510-4492785	HepG2	liver:	n/a	n/a
11	CTCF	chr12:4492600-4492750	GM12873	blood:	n/a	n/a
12	CTCF	chr12:4492600-4492750	GM12865	blood:	n/a	n/a
13	CTCF	chr12:4492535-4492709	GM13977	blood:	n/a	n/a
14	RAD21	chr12:4492375-4492890	A549	lung:	n/a	n/a
15	CTCF	chr12:4492524-4492736	Gliobla	brain:	n/a	n/a
16	RAD21	chr12:4492487-4492798	Hela-S3	cervix:	n/a	n/a
17	RCOR1	chr12:4492496-4492794	K562	blood:	n/a	n/a
18	RAD21	chr12:4492423-4492773	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:4492441-4492825	K562	blood:	n/a	chr12:4492456-4492464
20	RAD21	chr12:4492537-4492761	HepG2	liver:	n/a	n/a
21	CREB1	chr12:4492428-4492911	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAZ	chr12:4492513-4492816	K562	blood:	n/a	n/a
23	CTCF	chr12:4492531-4492724	GM12891	blood:	n/a	n/a
24	CTCF	chr12:4492540-4492690	HL-60	blood:	n/a	n/a
25	CTCF	chr12:4492520-4492744	GM12892	blood:	n/a	n/a
26	SMC3	chr12:4492529-4492754	GM12878	blood:	n/a	n/a
27	CTCF	chr12:4492600-4492750	GM12866	blood:	n/a	n/a
28	CTCF	chr12:4492542-4492717	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr12:4492600-4492750	GM12878	blood:	n/a	n/a
30	CTCF	chr12:4492580-4492730	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr12:4492560-4492710	GM12872	blood:	n/a	n/a
32	CTCF	chr12:4492391-4492832	H1-hESC	embryonic stem cell:	n/a	chr12:4492456-4492464
33	CTCF	chr12:4492487-4492750	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr12:4492525-4492704	GM19239	blood:	n/a	n/a
35	CTCF	chr12:4492620-4492770	BE2_C	brain:	n/a	n/a
36	CTCF	chr12:4492532-4492691	GM13976	blood:	n/a	n/a
37	CTCF	chr12:4492560-4492710	SK-N-SH_RA	brain:	n/a	n/a
38	RAD21	chr12:4492254-4493011	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr12:4492560-4492710	A549	lung:	n/a	n/a
40	RAD21	chr12:4492539-4492731	GM12878	blood:	n/a	n/a
41	RAD21	chr12:4492436-4492875	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr12:4492540-4492718	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:4492540-4492690	GM12873	blood:	n/a	n/a
44	NR2F2	chr12:4492505-4492772	K562	blood:	n/a	n/a
45	ZNF143	chr12:4492463-4492778	K562	blood:	n/a	n/a
46	CTCF	chr12:4492560-4492710	GM12874	blood:	n/a	n/a
47	CTCF	chr12:4492360-4492987	SK-N-SH	brain:	n/a	chr12:4492456-4492464
48	CTCF	chr12:4492345-4492869	K562	blood:	n/a	chr12:4492456-4492464
49	CTCF	chr12:4492600-4492750	GM12872	blood:	n/a	n/a
50	RAD21	chr12:4492424-4492874	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
FGF23	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1005054	0.94[EUR][1000 genomes]
rs10744644	0.94[EUR][1000 genomes]
rs10774228	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10774229	0.94[EUR][1000 genomes]
rs10849052	0.94[EUR][1000 genomes]
rs11063126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11063221	1.00[AFR][1000 genomes]
rs11063223	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs13312787	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2011618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970807	0.88[EUR][1000 genomes]
rs3217793	1.00[AMR][1000 genomes]
rs7138225	0.82[EUR][1000 genomes]
rs7295857	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7313282	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4488800-4493400	Weak transcription	Brain Germinal Matrix	brain
2	chr12:4491800-4493000	Enhancers	Fetal Intestine Large	intestine
3	chr12:4492000-4493000	Enhancers	Fetal Intestine Small	intestine
4	chr12:4492400-4492800	Enhancers	HepG2	liver
5	chr12:4492400-4493000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr12:4492400-4493000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:4492400-4493000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:4492600-4492800	Enhancers	K562	blood

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