Variant report

Variant	rs6443623
Chromosome Location	chr3:178861166-178861167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:178861160-178861280	MCF-7	breast:	n/a	n/a
2	ESR1	chr3:178861122-178861670	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr3:178861117-178861576	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr3:178861055-178861692	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178855332..178857552-chr3:178859935..178861757,2	K562	blood:
2	chr3:178860536..178862405-chr3:178864278..178865894,2	K562	blood:
3	chr3:178860905..178862503-chr3:178864078..178865778,2	K562	blood:
4	chr3:178785755..178789866-chr3:178859150..178861564,3	K562	blood:
5	chr3:178860056..178863629-chr3:178865664..178868412,4	MCF-7	breast:

No data

Variant related genes	Relation type
PIK3CA	TF binding region
ENSG00000229102	Chromatin interaction
ENSG00000121879	Chromatin interaction
ENSG00000172667	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10936993	0.94[EUR][1000 genomes]
rs12486399	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12497857	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13320527	0.94[EUR][1000 genomes]
rs1517585	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2865084	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28697961	0.94[EUR][1000 genomes]
rs45455192	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4854906	0.94[EUR][1000 genomes]
rs4854940	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4854955	0.94[EUR][1000 genomes]
rs4854976	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4855094	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60713157	0.84[EUR][1000 genomes]
rs61404287	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61796464	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61796465	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61796466	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61796467	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61798205	0.84[EUR][1000 genomes]
rs61798206	0.84[EUR][1000 genomes]
rs61798207	0.84[EUR][1000 genomes]
rs61798211	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61798213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6791215	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6804195	0.84[EUR][1000 genomes]
rs73051979	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73054091	0.90[EUR][1000 genomes]
rs7374077	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7615259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs950486	0.94[EUR][1000 genomes]
rs9758036	0.84[EUR][1000 genomes]
rs9812252	0.94[EUR][1000 genomes]
rs9819654	0.94[EUR][1000 genomes]
rs9823044	0.94[EUR][1000 genomes]
rs9833206	0.94[EUR][1000 genomes]
rs9860843	0.96[EUR][1000 genomes]
rs9872959	0.94[EUR][1000 genomes]
rs9878005	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv878037	chr3:178825910-178871906	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178860400-178864600	Weak transcription	Right Atrium	heart

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