Variant report

Variant	rs6542107
Chromosome Location	chr2:113732560-113732561
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	chr2:113731136..113733216-chr2:113735031..113736670,2	K562	blood:

Variant related genes	Relation type
ENSG00000136688	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10173618	0.98[EUR][1000 genomes]
rs10196340	0.98[EUR][1000 genomes]
rs10496447	0.92[CEU][hapmap]
rs13392494	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs13407838	0.98[EUR][1000 genomes]
rs13410389	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs13415097	0.93[EUR][1000 genomes]
rs1446516	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17042691	0.98[EUR][1000 genomes]
rs17607787	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17659543	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17660913	0.92[CEU][hapmap]
rs28938790	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs28947168	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28947170	0.84[EUR][1000 genomes]
rs28947203	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28954071	0.98[EUR][1000 genomes]
rs28954077	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28993969	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3768769	0.81[EUR][1000 genomes]
rs56198490	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6714534	1.00[CEU][hapmap];0.95[EUR][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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2880	chr2:113716802-113736921	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113731200-113734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:113731400-113734800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113731400-113735000	Weak transcription	NHEK	skin
4	chr2:113731600-113735200	Weak transcription	HMEC	breast

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