Variant report

Variant	rs13227138
Chromosome Location	chr7:127285739-127285740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127285659..127287680-chr7:127288381..127290683,3	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10487484	0.85[ASN][1000 genomes]
rs10487494	0.85[ASN][1000 genomes]
rs10487496	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12536698	0.85[ASN][1000 genomes]
rs12706803	0.92[ASN][1000 genomes]
rs13235029	0.92[ASN][1000 genomes]
rs13235596	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13244426	0.85[ASN][1000 genomes]
rs13247976	0.85[ASN][1000 genomes]
rs13309235	0.85[ASN][1000 genomes]
rs1419408	0.86[ASN][1000 genomes]
rs17660187	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17662800	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17663644	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17718364	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17730185	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17730294	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272374	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33973710	0.81[ASN][1000 genomes]
rs34121113	0.92[ASN][1000 genomes]
rs34188289	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34195583	0.92[ASN][1000 genomes]
rs34211107	0.85[ASN][1000 genomes]
rs34365152	0.85[ASN][1000 genomes]
rs34388330	0.85[ASN][1000 genomes]
rs34599926	0.89[ASN][1000 genomes]
rs34814259	0.92[ASN][1000 genomes]
rs34844752	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34881339	0.85[ASN][1000 genomes]
rs34980225	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35120956	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35144279	0.92[ASN][1000 genomes]
rs35246122	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35307919	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35421080	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35528098	0.85[ASN][1000 genomes]
rs35640048	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35872516	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36043097	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs36046498	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757785	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808096	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808111	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808115	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58341788	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58451280	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62468943	0.85[ASN][1000 genomes]
rs62481380	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481384	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481393	0.84[AMR][1000 genomes]
rs62483172	0.85[ASN][1000 genomes]
rs6957054	0.92[ASN][1000 genomes]
rs6964793	0.85[ASN][1000 genomes]
rs737242	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs746238	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808161	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7811506	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127282200-127285800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:127283000-127291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:127283400-127288400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:127284600-127291000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:127284600-127291000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:127284800-127291000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:127285200-127291200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:127285400-127291000	Weak transcription	Placenta	Placenta
9	chr7:127285600-127287800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:127285600-127291000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:127285600-127291000	Weak transcription	Adipose Nuclei	Adipose

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