Variant report

Variant	rs66815414
Chromosome Location	chr12:11345462-11345463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11329971..11333286-chr12:11342480..11345891,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256629	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs1349553	0.88[AFR][1000 genomes]
rs1451766	0.92[AFR][1000 genomes]
rs1551193	0.92[AFR][1000 genomes]
rs1650037	0.85[EUR][1000 genomes]
rs2290318	0.92[AFR][1000 genomes]
rs2290319	0.92[AFR][1000 genomes]
rs34373518	0.92[AFR][1000 genomes]
rs34413287	0.88[AFR][1000 genomes]
rs34666803	0.92[AFR][1000 genomes]
rs34708147	0.92[AFR][1000 genomes]
rs35097305	0.84[AFR][1000 genomes]
rs35128418	0.84[AFR][1000 genomes]
rs35376087	0.84[AFR][1000 genomes]
rs35470561	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35617784	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35746980	0.88[AFR][1000 genomes]
rs3851590	0.91[AFR][1000 genomes]
rs4583064	0.82[AFR][1000 genomes]
rs4763627	0.84[AFR][1000 genomes]
rs4763628	0.84[AFR][1000 genomes]
rs4763629	0.84[AFR][1000 genomes]
rs6488346	0.92[AFR][1000 genomes]
rs66840927	0.84[AFR][1000 genomes]
rs67789293	0.84[AFR][1000 genomes]
rs67961444	0.92[AFR][1000 genomes]
rs7303105	0.84[AFR][1000 genomes]
rs7316032	0.92[AFR][1000 genomes]
rs7974964	0.92[AFR][1000 genomes]
rs7980677	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs66815414	PRR4	cis	lung	GTEx
rs66815414	TAS2R20	cis	Nerve Tibial	GTEx
rs66815414	TAS2R64P	cis	Thyroid	GTEx
rs66815414	TAS2R31	cis	lung	GTEx
rs66815414	RP11-434C1.1	cis	Artery Tibial	GTEx
rs66815414	TAS2R43	cis	Thyroid	GTEx
rs66815414	PRR4	cis	Artery Tibial	GTEx
rs66815414	RP11-434C1.1	cis	lung	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11326400-11355600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:11330600-11365400	Weak transcription	Primary T cells from cord blood	blood

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