Variant report

Variant	rs12809955
Chromosome Location	chr12:47737595-47737596
allele	C/G
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	POLR2A	chr12:47737553-47737610	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr12:47737520-47737670	AG04450	lung:	n/a	n/a
3	CTCF	chr12:47737500-47737650	AG04449	skin:	n/a	n/a
4	CTCF	chr12:47737580-47737730	HMF	breast:	n/a	n/a
5	CTCF	chr12:47737580-47737730	HMEC	breast:	n/a	n/a
6	CTCF	chr12:47737500-47737650	GM12872	blood:	n/a	n/a
7	CTCF	chr12:47737583-47737715	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:47737560-47737710	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr12:47737500-47737650	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr12:47737520-47737670	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr12:47737580-47737730	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
ENSG00000258116	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10492010	0.81[ASN][1000 genomes]
rs10492012	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183851	0.86[ASN][1000 genomes]
rs11183853	0.86[ASN][1000 genomes]
rs11183854	0.86[ASN][1000 genomes]
rs11183855	0.86[ASN][1000 genomes]
rs11183856	0.86[ASN][1000 genomes]
rs11183857	0.86[ASN][1000 genomes]
rs11183858	0.86[ASN][1000 genomes]
rs11183859	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11183860	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11183862	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11183863	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11183866	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11183869	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183870	0.86[AMR][1000 genomes]
rs11183871	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11183872	0.81[ASN][1000 genomes]
rs11183874	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183875	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183882	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183885	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183890	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183891	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11183892	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183894	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183897	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183898	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183900	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183901	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183913	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183916	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183917	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183926	0.81[ASN][1000 genomes]
rs11183928	0.81[ASN][1000 genomes]
rs11183930	0.81[ASN][1000 genomes]
rs11183969	1.00[JPT][hapmap]
rs11561402	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12227067	0.81[ASN][1000 genomes]
rs12228708	0.81[ASN][1000 genomes]
rs12809861	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12810168	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12814166	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12814452	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12818155	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12818420	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12827137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12830961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12832278	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12832953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1421356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1833456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2040644	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2040645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2040646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2040647	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2079026	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2079027	0.81[ASN][1000 genomes]
rs2079028	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs215340	0.88[CHB][hapmap]
rs34187987	0.86[ASN][1000 genomes]
rs34692456	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34762197	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34878892	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35521464	0.81[ASN][1000 genomes]
rs35743720	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35839210	0.86[ASN][1000 genomes]
rs35889007	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs36059508	0.86[ASN][1000 genomes]
rs4473016	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768145	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768146	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768147	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768153	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768796	0.86[AMR][1000 genomes]
rs4768797	0.86[AMR][1000 genomes]
rs4768798	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768799	0.86[AMR][1000 genomes]
rs4768800	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71445736	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71462956	0.81[ASN][1000 genomes]
rs71462957	0.81[ASN][1000 genomes]
rs71462959	0.81[ASN][1000 genomes]
rs71462960	0.81[ASN][1000 genomes]
rs71462961	0.81[ASN][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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv983319	chr12:47734799-47738693	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47723200-47742200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47737400-47738400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:47737400-47738800	Enhancers	Osteobl	bone
4	chr12:47737400-47748400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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