Variant report

Variant	rs4902958
Chromosome Location	chr14:72427325-72427326
allele	A/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	GATA1	chr14:72426961-72427607	PBDE	blood:	n/a	chr14:72427379-72427390
2	CCNT2	chr14:72427305-72427622	K562	blood:	n/a	n/a
3	RCOR1	chr14:72427280-72427583	K562	blood:	n/a	n/a
4	KAP1	chr14:72427240-72427932	U2OS	brain:	n/a	n/a
5	EP300	chr14:72427283-72427519	K562	blood:	n/a	n/a
6	GATA1	chr14:72427258-72427565	K562	blood:	n/a	chr14:72427379-72427390
7	TEAD4	chr14:72427178-72427550	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72400385..72403304-chr14:72425307..72428044,2	MCF-7	breast:
2	chr14:72425794..72427539-chr14:72430812..72433255,2	MCF-7	breast:

Variant related genes	Relation type
RGS6	TF binding region
ENSG00000182732	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1009017	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs11158920	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158926	0.89[JPT][hapmap]
rs11158927	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs11620690	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs11622507	0.85[EUR][1000 genomes]
rs11623492	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs11623535	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs11625937	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs11627768	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11628133	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs11628574	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs12148043	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs12433721	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12434220	0.84[ASN][1000 genomes]
rs12437172	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1476745	0.88[JPT][hapmap]
rs17093750	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17104493	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17105346	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs17105566	0.93[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs17105606	0.93[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs17105690	0.93[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs17768361	0.88[JPT][hapmap]
rs2052015	0.84[JPT][hapmap]
rs2067856	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2159457	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2190864	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2238277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2238280	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs2332705	0.83[EUR][1000 genomes]
rs2877771	0.85[ASN][1000 genomes]
rs34729701	0.85[ASN][1000 genomes]
rs35051666	0.85[ASN][1000 genomes]
rs35858041	0.85[ASN][1000 genomes]
rs3784055	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3784056	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3784058	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243640	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4350510	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4354860	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4899409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899412	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4902966	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs56743778	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58890880	0.83[EUR][1000 genomes]
rs59631889	0.82[EUR][1000 genomes]
rs60503142	0.85[EUR][1000 genomes]
rs72734102	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72735921	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72735923	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72735952	0.85[EUR][1000 genomes]
rs72735955	0.85[EUR][1000 genomes]
rs72735956	0.85[EUR][1000 genomes]
rs728497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7493353	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7494103	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs8013467	0.93[CHB][hapmap];0.94[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72425400-72427800	Weak transcription	GM12878-XiMat	blood
2	chr14:72425600-72430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72425600-72431200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:72425800-72427600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:72426200-72428400	Weak transcription	Fetal Heart	heart
6	chr14:72426600-72427400	Weak transcription	Lung	lung
7	chr14:72426800-72427600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:72426800-72428200	Weak transcription	Right Ventricle	heart
9	chr14:72426800-72437200	Weak transcription	Left Ventricle	heart

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