Variant report

Variant	rs2899595
Chromosome Location	chr15:56311496-56311497
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	chr15:56304158..56307081-chr15:56310322..56313297,2	K562	blood:
2	chr15:56299007..56301700-chr15:56309609..56311858,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230183	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1112535	0.93[EUR][1000 genomes]
rs12909996	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911653	0.93[EUR][1000 genomes]
rs12911833	0.93[EUR][1000 genomes]
rs12913147	1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs12915953	0.93[EUR][1000 genomes]
rs16976653	0.85[TSI][hapmap]
rs16976674	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34236916	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34330530	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34841076	0.93[EUR][1000 genomes]
rs35215716	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35301686	0.93[EUR][1000 genomes]
rs35662811	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35710039	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35836088	0.93[EUR][1000 genomes]
rs35911067	0.93[EUR][1000 genomes]
rs35926005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57683252	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71476762	0.93[EUR][1000 genomes]
rs71476763	0.93[EUR][1000 genomes]
rs71476768	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161742	0.82[EUR][1000 genomes]
rs7179929	0.93[EUR][1000 genomes]
rs8043287	0.84[ASN][1000 genomes]
rs9652429	0.83[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv457159	chr15:56255774-56321854	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv569543	chr15:56255774-56321854	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv457160	chr15:56273446-56320235	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv569544	chr15:56273446-56320235	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
7	nsv457161	chr15:56274443-56324451	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
8	nsv569545	chr15:56274443-56324451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	nsv569546	chr15:56274443-56337527	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
10	nsv522734	chr15:56309541-56318384	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv528383	chr15:56309541-56318384	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56309600-56312200	Enhancers	NHEK	skin
2	chr15:56309600-56327200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:56309800-56312200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:56309800-56312200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:56310000-56311800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:56311200-56312400	Active TSS	A549	lung
7	chr15:56311400-56311600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:56311400-56311600	Enhancers	HMEC	breast
9	chr15:56311400-56311600	Enhancers	K562	blood
10	chr15:56311400-56311800	Active TSS	Hela-S3	cervix
11	chr15:56311400-56311800	Flanking Active TSS	HepG2	liver
12	chr15:56311400-56311800	Enhancers	NH-A	brain
13	chr15:56311400-56313600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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