Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:112810517..112812922-chr5:112822746..112824513,2	MCF-7	breast:
2	chr5:112809363..112813589-chr5:112821986..112825015,5	MCF-7	breast:
3	chr5:112811062..112815504-chr5:112818708..112822151,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171444	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10035297	0.82[EUR][1000 genomes]
rs10042141	0.82[EUR][1000 genomes]
rs10155616	0.82[EUR][1000 genomes]
rs10477493	0.86[ASN][1000 genomes]
rs11950116	0.82[EUR][1000 genomes]
rs11950577	0.82[EUR][1000 genomes]
rs12652864	1.00[AMR][1000 genomes]
rs12656898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12659593	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1582487	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17135586	1.00[AMR][1000 genomes]
rs17135601	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135607	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135615	1.00[AMR][1000 genomes]
rs1816063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2222145	1.00[AMR][1000 genomes]
rs2900070	1.00[AMR][1000 genomes]
rs36009332	0.82[EUR][1000 genomes]
rs3843500	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41459745	1.00[AMR][1000 genomes]
rs4345310	0.82[EUR][1000 genomes]
rs56090613	0.91[EUR][1000 genomes]
rs6866028	0.82[EUR][1000 genomes]
rs7719254	0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr5:112807800-112821600	Weak transcription	HMEC	breast
2	chr5:112808800-112812400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112810200-112811600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:112810200-112823000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112810400-112820600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112810400-112821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:112810600-112813200	Weak transcription	Fetal Heart	heart
8	chr5:112811000-112811800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:112811200-112811800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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