Variant report

Variant	rs1169082
Chromosome Location	chr12:122449688-122449689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122445617..122452949-chr12:122456112..122461928,13	MCF-7	breast:
2	chr12:122442757..122445214-chr12:122447677..122450605,3	K562	blood:

Variant related genes	Relation type
ENSG00000255856	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1154513	0.90[ASN][1000 genomes]
rs1169075	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1169077	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1169080	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1169085	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1169092	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1169093	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1182927	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1185260	0.88[ASN][1000 genomes]
rs1667580	0.88[ASN][1000 genomes]
rs1667583	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1667584	0.88[ASN][1000 genomes]
rs1678951	0.88[ASN][1000 genomes]
rs1678967	0.81[ASN][1000 genomes]
rs1678969	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1720041	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1720067	0.81[ASN][1000 genomes]
rs1916333	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2247139	0.87[ASN][1000 genomes]
rs493519	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6486794	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs693277	0.88[ASN][1000 genomes]
rs7957207	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7961103	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs830116	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs830122	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs830123	0.89[AMR][1000 genomes]
rs830126	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs853758	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895958	0.88[ASN][1000 genomes]
rs9739533	0.87[AMR][1000 genomes];0.81[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

No data

Chromatin state (count:13 , 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	chr12:122446000-122451400	Weak transcription	Dnd41	blood
7	chr12:122447400-122449800	Weak transcription	HSMMtube	muscle
8	chr12:122448800-122451400	Weak transcription	Thymus	Thymus
9	chr12:122448800-122452200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:122449000-122451600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:122449000-122456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:122449200-122450000	Weak transcription	Fetal Thymus	thymus
13	chr12:122449600-122450400	Weak transcription	Primary hematopoietic stem cells	blood

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