Variant report

Variant	rs12047894
Chromosome Location	chr1:226387878-226387879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226308697..226313328-chr1:226386714..226391667,5	K562	blood:
2	chr1:226384703..226386369-chr1:226387289..226388865,2	MCF-7	breast:
3	chr1:226385775..226389185-chr1:226391556..226393857,3	K562	blood:
4	chr1:226387663..226390338-chr1:226442636..226444906,2	MCF-7	breast:
5	chr1:226346683..226348956-chr1:226386366..226388887,2	MCF-7	breast:
6	chr1:226370401..226372678-chr1:226386558..226389144,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10732276	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10799340	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10915952	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10915953	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12032630	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2306121	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2889539	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3914142	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4653718	0.84[EUR][1000 genomes]
rs4653722	0.80[EUR][1000 genomes]
rs9286997	0.83[EUR][1000 genomes]
rs9286998	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9659225	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9660696	0.80[EUR][1000 genomes]
rs9660874	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9660924	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9661836	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9662709	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9725308	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9725342	0.83[EUR][1000 genomes]
rs9728014	0.83[EUR][1000 genomes]
rs9728310	0.81[EUR][1000 genomes]
rs9729232	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9729554	0.80[AMR][1000 genomes];0.83[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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12047894	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
2	chr1:226383400-226390800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:226387400-226388000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:226387400-226388000	Enhancers	Primary B cells from cord blood	blood
5	chr1:226387400-226388000	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:226387400-226388000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:226387400-226388200	Enhancers	Primary monocytes fromperipheralblood	blood

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