Variant report

Variant	rs2067856
Chromosome Location	chr14:72425991-72425992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72400385..72403304-chr14:72425307..72428044,2	MCF-7	breast:
2	chr14:72423860..72426368-chr14:72427413..72429540,3	MCF-7	breast:
3	chr14:72425794..72427539-chr14:72430812..72433255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182732	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1009017	0.87[CHB][hapmap];0.89[CHD][hapmap]
rs11158920	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11158927	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.85[MEX][hapmap]
rs11620690	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs11623492	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap]
rs11623535	0.93[CHB][hapmap];0.89[CHD][hapmap];0.80[MEX][hapmap]
rs11625937	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap]
rs11627768	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs11628133	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[MEX][hapmap]
rs11628574	1.00[CEU][hapmap]
rs12148043	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.89[MEX][hapmap]
rs12433721	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12437172	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12897929	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs17093750	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17104493	0.88[EUR][1000 genomes]
rs17105346	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap]
rs17105566	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs17105606	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs17105690	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs2159457	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238277	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238280	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2877771	0.80[ASN][1000 genomes]
rs34729701	0.80[ASN][1000 genomes]
rs35051666	0.80[ASN][1000 genomes]
rs35858041	0.80[ASN][1000 genomes]
rs3784055	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3784056	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3784058	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4243640	0.93[CHB][hapmap];0.89[CHD][hapmap]
rs4350510	0.93[CHB][hapmap]
rs4354860	0.93[CHB][hapmap];0.89[CHD][hapmap];0.80[MEX][hapmap]
rs4899409	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899412	0.93[CHB][hapmap];0.89[CHD][hapmap]
rs4902958	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]
rs4902966	0.93[CHB][hapmap]
rs56067914	0.84[ASN][1000 genomes]
rs56743778	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72734102	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72735921	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72735923	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs728497	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7493353	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7494103	1.00[CEU][hapmap]
rs8013467	0.93[CHB][hapmap];0.89[CHD][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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2067856	ADAM20	cis	cerebellum	SCAN
rs2067856	PCNX	cis	cerebellum	SCAN
rs2067856	ACOT4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72425400-72427000	Enhancers	Adipose Nuclei	Adipose
2	chr14:72425400-72427800	Weak transcription	GM12878-XiMat	blood
3	chr14:72425600-72426000	Weak transcription	Left Ventricle	heart
4	chr14:72425600-72426200	Enhancers	Fetal Heart	heart
5	chr14:72425600-72426600	Enhancers	Fetal Stomach	stomach
6	chr14:72425600-72430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:72425600-72431200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:72425800-72426800	Enhancers	Right Ventricle	heart
9	chr14:72425800-72427600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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