Variant report

Variant	rs55768815
Chromosome Location	chr2:40088487-40088488
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10188106	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11692413	0.97[ASN][1000 genomes]
rs11695763	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12475386	0.96[ASN][1000 genomes]
rs13424439	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1541564	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17480505	0.96[ASN][1000 genomes]
rs1861248	0.96[ASN][1000 genomes]
rs2080296	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2192703	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373702	0.84[ASN][1000 genomes]
rs60399093	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62137179	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62137180	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62137182	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62137183	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62137185	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62137188	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62137214	0.91[ASN][1000 genomes]
rs6732387	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7556977	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562741	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv873891	chr2:40046658-40173905	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv430947	chr2:40080723-40141649	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv581496	chr2:40082054-40123904	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40087800-40088600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40088200-40090800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:40088200-40092800	Weak transcription	HMEC	breast

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