Variant report

Variant	rs6486793
Chromosome Location	chr12:122453358-122453359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122445744..122449221-chr12:122451078..122453446,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1824949	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1851597	0.82[AMR][1000 genomes]
rs2004863	0.90[EUR][1000 genomes]
rs2004864	0.90[EUR][1000 genomes]
rs2076860	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2272132	1.00[GIH][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3741581	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4522209	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs55778445	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57298119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58025403	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58026220	0.97[EUR][1000 genomes]
rs58158474	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58516770	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58642707	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59116149	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59178789	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59695002	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60620185	0.97[EUR][1000 genomes]
rs6486792	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138299	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7138556	0.90[EUR][1000 genomes]
rs7294535	0.97[EUR][1000 genomes]
rs7294829	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303779	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7314352	0.97[EUR][1000 genomes]
rs7964151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs830125	0.97[EUR][1000 genomes]
rs872781	0.97[EUR][1000 genomes]
rs884785	0.85[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs884786	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6486793	BCL7A	cis	Muscle Skeletal	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
4	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
5	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:122449000-122456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:122452400-122456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:122452400-122456200	Weak transcription	Pancreas	Pancrea
9	chr12:122453000-122456000	Weak transcription	Fetal Thymus	thymus
10	chr12:122453000-122456000	Weak transcription	Dnd41	blood
11	chr12:122453200-122456000	Weak transcription	Thymus	Thymus

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