Variant report

Variant	rs2026127
Chromosome Location	chr13:52430854-52430855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52428643..52431387-chr13:52437841..52440580,2	MCF-7	breast:
2	chr13:52376819..52378768-chr13:52430432..52432094,2	K562	blood:

Variant related genes	Relation type
ENSG00000231856	Chromatin interaction
ENSG00000102796	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2408529	0.95[EUR][1000 genomes]
rs2408533	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2408534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4245358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4245359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4245360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4245361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4245362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4245363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4287464	0.95[EUR][1000 genomes]
rs4297595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4386034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs479752	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943031	0.89[EUR][1000 genomes]
rs4943032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs527995	1.00[EUR][1000 genomes]
rs598957	0.89[EUR][1000 genomes]
rs684955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7334073	0.95[EUR][1000 genomes]
rs7334251	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7338350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085835	1.00[EUR][1000 genomes]
rs7986191	0.95[EUR][1000 genomes]
rs8002613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs913899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs928168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9535785	1.00[CEU][hapmap]
rs9535788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52420000-52432600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:52430400-52431000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:52430600-52431600	Enhancers	HepG2	liver
4	chr13:52430600-52436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:52430800-52431200	Enhancers	Fetal Lung	lung
6	chr13:52430800-52432800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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