Variant report

Variant	rs73440527
Chromosome Location	chr7:124863443-124863444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10268841	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56027755	0.89[AMR][1000 genomes]
rs73438462	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73438468	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73438471	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73438475	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73438481	1.00[AMR][1000 genomes]
rs73438483	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73438490	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73440515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73440535	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73440543	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73440547	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73719331	0.93[AFR][1000 genomes];1.00[AMR][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	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
2	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
3	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
4	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124858200-124864000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:124861200-124863800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:124862200-124864400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:124862400-124866200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:124862800-124863600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:124863000-124864200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:124863200-124864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:124863400-124864200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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