Variant report

Variant	rs2193972
Chromosome Location	chr5:107766331-107766332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:107716036..107718254-chr5:107765729..107768078,2	MCF-7	breast:
2	chr5:107716604..107720208-chr5:107763406..107767429,4	MCF-7	breast:
3	chr5:107765623..107768085-chr5:107772135..107774464,2	K562	blood:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10061044	0.92[CHB][hapmap]
rs10515388	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap]
rs11242664	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap]
rs12652237	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12652675	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs12653027	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs12654140	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs12656739	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658760	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12658885	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12659437	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs17161193	1.00[CEU][hapmap]
rs17385914	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs17386492	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs17386875	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs17387645	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs17388244	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs17452357	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs17452992	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs34924629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4129424	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs4364376	1.00[CEU][hapmap]
rs57268633	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60731389	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61135906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6880005	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs7703347	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7704811	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7724245	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs7724860	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs7724884	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs7733036	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107766000-107767200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:107766200-107767200	Enhancers	NHDF-Ad	bronchial

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