Variant report

Variant	rs1357971
Chromosome Location	chr7:124788935-124788936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124783039..124785786-chr7:124787614..124790434,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10500102	0.84[AMR][1000 genomes]
rs12531213	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12531708	0.82[EUR][1000 genomes]
rs12535063	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12539545	0.82[EUR][1000 genomes]
rs1454124	0.84[EUR][1000 genomes]
rs17147889	0.92[AFR][1000 genomes]
rs17148021	0.82[EUR][1000 genomes]
rs28402853	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3847093	0.82[EUR][1000 genomes]
rs58160159	0.82[EUR][1000 genomes]
rs590516	0.86[ASN][1000 genomes]
rs60486828	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs625037	0.85[ASN][1000 genomes]
rs6466995	0.82[ASN][1000 genomes]
rs651988	0.86[ASN][1000 genomes]
rs659269	0.94[ASN][1000 genomes]
rs664062	0.86[ASN][1000 genomes]
rs6947036	0.82[EUR][1000 genomes]
rs6954295	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs715937	0.82[ASN][1000 genomes]
rs73438500	0.84[EUR][1000 genomes]
rs73440504	0.82[EUR][1000 genomes]
rs73440522	0.82[EUR][1000 genomes]
rs73440528	0.82[EUR][1000 genomes]
rs73440532	0.82[EUR][1000 genomes]
rs73440534	0.82[EUR][1000 genomes]
rs7783242	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7794583	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800299	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs792617	0.82[ASN][1000 genomes]
rs792637	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv464708	chr7:124703756-124805279	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv608344	chr7:124703756-124805279	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124785600-124789200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124787200-124789200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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