Variant report

Variant	rs73175452
Chromosome Location	chr2:12054502-12054503
allele	A/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]
rs11901995	1.00[AMR][1000 genomes]
rs16858066	1.00[AMR][1000 genomes]
rs60406176	1.00[AMR][1000 genomes]
rs6723216	1.00[AMR][1000 genomes]
rs6732821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736659	1.00[AMR][1000 genomes]
rs6748351	1.00[AMR][1000 genomes]
rs6748733	1.00[AMR][1000 genomes]
rs73175470	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73177640	1.00[AMR][1000 genomes]
rs73179831	1.00[AMR][1000 genomes]
rs7568754	1.00[AMR][1000 genomes]
rs7606301	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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12042000-12061200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:12051800-12056000	ZNF genes & repeats	GM12878-XiMat	blood
3	chr2:12053800-12056000	Enhancers	Fetal Muscle Leg	muscle
4	chr2:12054000-12055400	Enhancers	HSMMtube	muscle
5	chr2:12054200-12055400	Enhancers	HSMM	muscle

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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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