Variant report

Variant	rs12654347
Chromosome Location	chr5:178217922-178217923
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	chr5:178217515..178219756-chr5:178222476..178225165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250420	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10039698	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10043140	0.97[ASN][1000 genomes]
rs12651867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12653704	1.00[AMR][1000 genomes]
rs17078801	1.00[CEU][hapmap]
rs34498616	1.00[AMR][1000 genomes]
rs4073381	1.00[CHB][hapmap]
rs60425051	1.00[AMR][1000 genomes]
rs62392960	0.89[EUR][1000 genomes]
rs62392961	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62392964	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62392965	0.89[EUR][1000 genomes]
rs62393009	1.00[AMR][1000 genomes]
rs62393902	0.96[ASN][1000 genomes]
rs62393905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62393906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62393907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62393909	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62393910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62393911	1.00[EUR][1000 genomes]
rs7443613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7444300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][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	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv462573	chr5:178180299-178241495	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv600452	chr5:178180299-178241495	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178166600-178224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:178216600-178218000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:178216600-178218000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:178216800-178218000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:178217400-178218000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:178217400-178218000	Enhancers	Esophagus	oesophagus
7	chr5:178217600-178218000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:178217800-178218000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:178217800-178218000	Flanking Active TSS	Gastric	stomach
10	chr5:178217800-178218000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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