Variant report

Variant	rs12154305
Chromosome Location	chr7:26587091-26587092
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:26586779-26587192	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr7:26586766-26587209	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26582972..26584768-chr7:26586705..26589472,2	K562	blood:
2	chr7:26586327..26589450-chr7:26590701..26593328,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233760	TF binding region
ENSG00000233760	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10240247	1.00[ASN][1000 genomes]
rs10253181	1.00[ASN][1000 genomes]
rs34349657	0.89[ASN][1000 genomes]
rs55639061	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55644320	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55668747	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55687119	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55703313	0.83[EUR][1000 genomes]
rs55715725	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55779830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871610	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55992393	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56099614	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56157887	1.00[ASN][1000 genomes]
rs56158033	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56171200	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56325361	1.00[ASN][1000 genomes]
rs56408177	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953881	1.00[ASN][1000 genomes]
rs6970244	1.00[ASN][1000 genomes]
rs6974982	1.00[ASN][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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26578800-26591600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:26579400-26589000	Weak transcription	Fetal Thymus	thymus
3	chr7:26582400-26592200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:26584800-26588000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:26585000-26588000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:26585200-26589000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:26586200-26588800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:26586600-26588200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:26586800-26595600	Weak transcription	Fetal Kidney	kidney

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