Variant report

Variant	rs2227545
Chromosome Location	chr4:74608727-74608728
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45873444..45876329-chr4:74608235..74610589,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10033377	1.00[EUR][1000 genomes]
rs16849925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16849934	0.93[AFR][1000 genomes]
rs1951237	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227525	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28544060	1.00[EUR][1000 genomes]
rs28560265	1.00[EUR][1000 genomes]
rs28707294	1.00[EUR][1000 genomes]
rs28879705	1.00[EUR][1000 genomes]
rs55648028	1.00[EUR][1000 genomes]
rs57818652	0.86[AFR][1000 genomes]
rs59569175	1.00[EUR][1000 genomes]
rs59914288	0.86[AFR][1000 genomes]
rs6840833	1.00[EUR][1000 genomes]
rs6847987	1.00[EUR][1000 genomes]
rs6853880	1.00[EUR][1000 genomes]
rs73827899	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73827900	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7657469	1.00[EUR][1000 genomes]
rs7668660	1.00[EUR][1000 genomes]
rs7673632	1.00[EUR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv980219	chr4:74603561-74618789	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr4:74606200-74610200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74606400-74609400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:74606400-74616800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:74606800-74610400	Weak transcription	NH-A	brain
5	chr4:74607200-74610600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:74607400-74608800	Enhancers	HUVEC	blood vessel
7	chr4:74607400-74613400	Weak transcription	NHEK	skin
8	chr4:74607400-74616800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:74607600-74610600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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