Variant report

Variant	rs11750784
Chromosome Location	chr5:178158594-178158595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178154802..178159439-chr5:178284936..178288781,7	MCF-7	breast:
2	chr5:178042530..178044673-chr5:178156858..178158969,2	MCF-7	breast:
3	chr5:178051446..178054153-chr5:178157357..178158910,2	MCF-7	breast:
4	chr5:178156014..178158845-chr5:178285994..178289826,5	MCF-7	breast:
5	chr5:177663150..177665160-chr5:178157825..178159335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113240	Chromatin interaction
ENSG00000178338	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10043035	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11249566	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11747232	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11747390	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11750409	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13167549	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13173130	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13186580	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34601045	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34645905	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34651317	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34981103	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34981407	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35007468	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35579651	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35850587	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4533908	0.83[EUR][1000 genomes]
rs55774261	0.84[AMR][1000 genomes]
rs55818572	0.86[AMR][1000 genomes]
rs55912234	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56027952	0.86[AMR][1000 genomes]
rs56070635	0.86[AMR][1000 genomes]
rs62392842	0.85[AMR][1000 genomes]
rs62392854	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66947564	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6870021	0.85[AMR][1000 genomes]
rs6890741	0.85[AMR][1000 genomes]
rs71611460	0.91[AMR][1000 genomes];0.90[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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	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
3	nsv883217	chr5:178099758-178193081	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11750784	ZNF354A	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178149400-178164400	Weak transcription	Fetal Heart	heart
2	chr5:178157600-178159600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:178157800-178159200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr5:178158200-178158800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:178158200-178159200	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:178158200-178159200	Weak transcription	Brain Substantia Nigra	brain
7	chr5:178158200-178159200	Weak transcription	Stomach Mucosa	stomach
8	chr5:178158200-178161200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:178158400-178158800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:178158400-178159000	Weak transcription	Primary B cells from cord blood	blood

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