Variant report

Variant	rs2190872
Chromosome Location	chr14:72429064-72429065
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	MEF2C	chr14:72428638-72429101	GM12878	blood:	n/a	chr14:72428851-72428866
2	MEF2A	chr14:72428558-72429071	GM12878	blood:	n/a	n/a
3	RFX5	chr14:72428873-72429165	GM12878	blood:	n/a	n/a
4	MEF2A	chr14:72428587-72429143	GM12878	blood:	n/a	n/a
5	NFIC	chr14:72428519-72429428	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72423860..72426368-chr14:72427413..72429540,3	MCF-7	breast:
2	chr14:72427443..72429272-chr14:72430391..72433116,2	MCF-7	breast:

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10147777	0.82[ASN][1000 genomes]
rs10483838	0.81[JPT][hapmap]
rs11846754	0.82[ASN][1000 genomes]
rs12884777	0.94[JPT][hapmap]
rs17104975	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs17104979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17105025	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17105032	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17105061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1860105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1989628	0.91[ASN][1000 genomes]
rs2109268	0.87[CEU][hapmap]
rs2190874	0.81[CEU][hapmap]
rs2238274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2238275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2238276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2238278	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238283	0.82[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2238285	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2239266	0.81[JPT][hapmap]
rs2239270	0.82[JPT][hapmap]
rs2283422	0.94[JPT][hapmap]
rs23219	0.93[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2332701	0.99[ASN][1000 genomes]
rs2332706	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs36327	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36331	0.81[CEU][hapmap]
rs3784054	0.81[JPT][hapmap]
rs41389946	0.81[JPT][hapmap]
rs41488847	0.81[JPT][hapmap]
rs4598834	0.80[CEU][hapmap]
rs4899406	0.81[CEU][hapmap]
rs4902960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4902961	0.94[JPT][hapmap]
rs4902965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4902969	0.80[CEU][hapmap]
rs4902972	0.80[CEU][hapmap]
rs56731686	0.91[ASN][1000 genomes]
rs58002698	0.88[ASN][1000 genomes]
rs59307289	0.88[ASN][1000 genomes]
rs60545259	0.88[ASN][1000 genomes]
rs6574036	0.81[CEU][hapmap]
rs7143919	0.94[JPT][hapmap]
rs7156200	0.94[JPT][hapmap]
rs720391	0.91[ASN][1000 genomes]
rs728495	0.87[CEU][hapmap]
rs758236	0.87[CEU][hapmap]
rs764624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8011972	0.80[CEU][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72425600-72430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72425600-72431200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72426800-72437200	Weak transcription	Left Ventricle	heart
4	chr14:72427800-72430400	Enhancers	GM12878-XiMat	blood
5	chr14:72428400-72430000	Enhancers	Fetal Heart	heart
6	chr14:72428400-72430200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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