Variant report

Variant	rs60852547
Chromosome Location	chr3:23509474-23509475
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11915691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59513149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6799121	1.00[AMR][1000 genomes]
rs73821814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73821815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73821817	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73821825	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73821829	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73821856	1.00[AMR][1000 genomes]
rs73821859	1.00[AMR][1000 genomes]
rs73823457	1.00[AMR][1000 genomes]
rs73823460	1.00[AFR][1000 genomes]
rs73823465	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv876625	chr3:23390301-23509597	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 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	chr3:23498200-23516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:23505000-23511400	Weak transcription	Psoas Muscle	Psoas
3	chr3:23505600-23510000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:23506800-23516400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:23507200-23516600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:23507400-23512800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:23507400-23516200	Weak transcription	HSMMtube	muscle
8	chr3:23509400-23510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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