Variant report

Variant	rs8033054
Chromosome Location	chr15:49943997-49943998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:49943948-49944610	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:49943918-49945454	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49928185..49930048-chr15:49941655..49944211,2	K562	blood:

Variant related genes	Relation type
ENSG00000261597	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10519235	1.00[GIH][hapmap]
rs16962663	1.00[GIH][hapmap]
rs16962664	1.00[GIH][hapmap]
rs16962668	1.00[GIH][hapmap]
rs16962682	1.00[ASW][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs16962687	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16962690	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16962694	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16962726	1.00[AMR][1000 genomes]
rs16962736	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs55820213	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55880877	1.00[AMR][1000 genomes]
rs56194958	1.00[AMR][1000 genomes]
rs56365767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57224380	1.00[AMR][1000 genomes]
rs57402896	1.00[AMR][1000 genomes]
rs58984166	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59572993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59606072	1.00[AMR][1000 genomes]
rs60224127	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60597223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61575085	1.00[AMR][1000 genomes]
rs61702984	1.00[AMR][1000 genomes]
rs7167875	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7170176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012392	1.00[AMR][1000 genomes]
rs74012429	1.00[AMR][1000 genomes]
rs74012431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012440	1.00[AMR][1000 genomes]
rs74012455	0.94[AFR][1000 genomes]
rs74012457	1.00[AMR][1000 genomes]
rs74012459	1.00[AMR][1000 genomes]
rs74012461	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012489	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012490	1.00[AMR][1000 genomes]
rs74012491	1.00[AMR][1000 genomes]
rs74014148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74014149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74014150	1.00[AMR][1000 genomes]
rs74014340	1.00[AMR][1000 genomes]
rs74014341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74014352	1.00[AMR][1000 genomes]
rs8028721	1.00[GIH][hapmap]
rs8028992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8030707	1.00[GIH][hapmap]
rs8033587	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8035218	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8039808	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49938400-49944600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:49938400-49944600	Weak transcription	Ovary	ovary
3	chr15:49938400-49945400	Weak transcription	Fetal Heart	heart
4	chr15:49938800-49946200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:49939000-49944400	Weak transcription	HSMMtube	muscle
6	chr15:49939000-49944600	Weak transcription	Osteobl	bone
7	chr15:49939000-49945000	Weak transcription	Left Ventricle	heart
8	chr15:49940000-49944400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:49943600-49946600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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