Variant report

Variant	rs9662709
Chromosome Location	chr1:226383649-226383650
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226381844..226383704-chr1:226388767..226391122,2	MCF-7	breast:
2	chr1:226309186..226312321-chr1:226381132..226386632,6	MCF-7	breast:
3	chr1:226374087..226377856-chr1:226380346..226384687,6	MCF-7	breast:
4	chr1:226373490..226375675-chr1:226381413..226384539,3	MCF-7	breast:
5	chr1:226311060..226314029-chr1:226383239..226385017,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction
ENSG00000223570	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10732276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10799337	0.86[EUR][1000 genomes]
rs10799340	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915952	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10915953	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12032630	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12047894	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306121	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2889539	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3914142	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4653718	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4653722	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9286997	0.92[EUR][1000 genomes]
rs9286998	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9659225	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9660696	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9660874	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9660924	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9661836	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9725308	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9725342	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9728014	0.92[EUR][1000 genomes]
rs9728310	0.90[EUR][1000 genomes]
rs9729232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9729554	0.86[AMR][1000 genomes];0.93[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	esv20384	chr1:226375850-226384008	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9662709	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
2	chr1:226383000-226384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226383200-226384600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226383400-226390800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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