Variant report

Variant	rs59347412
Chromosome Location	chr6:55692702-55692703
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	chr6:55691393..55693099-chr6:55693206..55696173,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs4576248	1.00[AMR][1000 genomes]
rs55778645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56750083	1.00[AMR][1000 genomes]
rs57385665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58284917	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60070969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909150	1.00[AMR][1000 genomes]
rs73446194	1.00[AMR][1000 genomes]
rs73446200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446201	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448111	1.00[AMR][1000 genomes]
rs73448135	1.00[AMR][1000 genomes]
rs73744903	1.00[AMR][1000 genomes]
rs73744908	1.00[AMR][1000 genomes]
rs7766232	1.00[AMR][1000 genomes]
rs7767545	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1032684	chr6:55680473-55766876	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55687800-55693200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:55687800-55693200	Enhancers	HMEC	breast
3	chr6:55687800-55693800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:55688200-55693400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:55689200-55693200	Enhancers	NHEK	skin
6	chr6:55689200-55693400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:55690400-55693000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:55690400-55693200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:55690600-55698000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:55691000-55692800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:55691000-55693000	Weak transcription	NHLF	lung
12	chr6:55691000-55693400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:55691000-55693600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:55691600-55693000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:55691600-55693200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:55691600-55694000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:55691800-55693200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:55691800-55693200	Enhancers	NHDF-Ad	bronchial
19	chr6:55692000-55693000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:55692400-55693200	Flanking Active TSS	Fetal Heart	heart
21	chr6:55692400-55693200	Enhancers	HepG2	liver
22	chr6:55692600-55693000	Flanking Active TSS	A549	lung
23	chr6:55692600-55693400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:55692600-55693400	Enhancers	Fetal Lung	lung
25	chr6:55692600-55693400	Enhancers	Hela-S3	cervix

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