Variant report

Variant	rs7299471
Chromosome Location	chr12:74806263-74806264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:74415389..74416204-chr12:74806037..74807059,3	MCF-7	breast:
2	chr12:74805449..74807207-chr12:74930003..74932862,2	K562	blood:
3	chr12:74799398..74801033-chr12:74804670..74806463,2	K562	blood:
4	chr12:74329268..74329785-chr12:74806142..74806934,2	K562	blood:

Variant related genes	Relation type
ENSG00000257386	Chromatin interaction
ENSG00000253719	Chromatin interaction

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

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

rs_ID	r²[population]
rs10785114	1.00[ASN][1000 genomes]
rs10785115	0.95[ASN][1000 genomes]
rs10785116	0.80[ASN][1000 genomes]
rs10785117	1.00[ASN][1000 genomes]
rs12299583	0.94[EUR][1000 genomes]
rs12313269	0.94[EUR][1000 genomes]
rs12423700	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12424698	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424923	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427265	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17769266	0.87[EUR][1000 genomes]
rs17831577	0.94[EUR][1000 genomes]
rs17831727	0.94[EUR][1000 genomes]
rs17831897	0.94[EUR][1000 genomes]
rs1870697	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162396	0.87[EUR][1000 genomes]
rs2169292	0.95[ASN][1000 genomes]
rs2169293	1.00[ASN][1000 genomes]
rs4020451	0.87[EUR][1000 genomes]
rs4390411	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61733814	0.87[EUR][1000 genomes]
rs6582220	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488944	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953990	1.00[ASN][1000 genomes]
rs7961321	0.90[ASN][1000 genomes]
rs7974001	1.00[ASN][1000 genomes]
rs980784	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv983440	chr12:74798518-74823611	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74796600-74807200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:74796600-74807400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:74800600-74807400	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:74802800-74806400	Weak transcription	A549	lung
5	chr12:74806000-74806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:74806200-74806400	Enhancers	Brain Substantia Nigra	brain
7	chr12:74806200-74806600	Enhancers	Brain Inferior Temporal Lobe	brain

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