Variant report

Variant	rs461612
Chromosome Location	chr5:40804225-40804226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40802285..40804990-chr5:40806430..40808418,3	K562	blood:
2	chr5:40802266..40804575-chr5:40807090..40808775,2	MCF-7	breast:
3	chr5:40796800..40800335-chr5:40800670..40804865,6	MCF-7	breast:
4	chr5:40802997..40805283-chr5:40828137..40831104,3	MCF-7	breast:
5	chr5:40793843..40796817-chr5:40803354..40805786,3	K562	blood:
6	chr5:40803716..40807696-chr5:40826215..40829999,3	MCF-7	breast:
7	chr5:40802676..40804762-chr5:40806343..40808441,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1097592	1.00[AMR][1000 genomes]
rs152374	1.00[ASN][1000 genomes]
rs152376	0.94[ASN][1000 genomes]
rs154269	1.00[ASN][1000 genomes]
rs154270	0.94[ASN][1000 genomes]
rs154271	0.94[ASN][1000 genomes]
rs154272	0.81[ASN][1000 genomes]
rs154276	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs154277	1.00[ASN][1000 genomes]
rs154278	1.00[ASN][1000 genomes]
rs154282	1.00[ASN][1000 genomes]
rs154283	1.00[ASN][1000 genomes]
rs1645509	0.81[ASN][1000 genomes]
rs166282	0.81[ASN][1000 genomes]
rs173618	0.94[ASN][1000 genomes]
rs173619	0.81[ASN][1000 genomes]
rs181818	0.83[ASN][1000 genomes]
rs181820	0.81[ASN][1000 genomes]
rs181821	0.81[ASN][1000 genomes]
rs183138	0.94[ASN][1000 genomes]
rs185114	1.00[ASN][1000 genomes]
rs185115	1.00[ASN][1000 genomes]
rs185381	1.00[ASN][1000 genomes]
rs249408	0.87[ASN][1000 genomes]
rs249409	0.87[ASN][1000 genomes]
rs249411	0.87[ASN][1000 genomes]
rs249412	0.87[ASN][1000 genomes]
rs249421	1.00[ASN][1000 genomes]
rs249424	1.00[ASN][1000 genomes]
rs249426	1.00[ASN][1000 genomes]
rs249427	1.00[ASN][1000 genomes]
rs249431	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs249432	0.94[ASN][1000 genomes]
rs249433	0.94[ASN][1000 genomes]
rs249434	0.94[ASN][1000 genomes]
rs249435	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs249439	0.81[ASN][1000 genomes]
rs29737	1.00[ASN][1000 genomes]
rs29741	1.00[ASN][1000 genomes]
rs34236150	0.81[ASN][1000 genomes]
rs35672368	1.00[AMR][1000 genomes]
rs370346	0.81[ASN][1000 genomes]
rs380334	1.00[ASN][1000 genomes]
rs382916	1.00[ASN][1000 genomes]
rs396412	0.81[ASN][1000 genomes]
rs4129381	0.87[ASN][1000 genomes]
rs424787	0.81[ASN][1000 genomes]
rs438604	0.81[ASN][1000 genomes]
rs441016	0.81[ASN][1000 genomes]
rs445367	0.81[ASN][1000 genomes]
rs455374	0.81[ASN][1000 genomes]
rs455519	1.00[ASN][1000 genomes]
rs456929	1.00[ASN][1000 genomes]
rs456995	1.00[ASN][1000 genomes]
rs457111	0.81[ASN][1000 genomes]
rs458884	0.81[ASN][1000 genomes]
rs459491	0.81[ASN][1000 genomes]
rs459794	0.81[ASN][1000 genomes]
rs460752	0.81[ASN][1000 genomes]
rs463040	0.81[ASN][1000 genomes]
rs463675	0.81[ASN][1000 genomes]
rs463905	0.81[ASN][1000 genomes]
rs464045	0.81[ASN][1000 genomes]
rs464191	0.81[ASN][1000 genomes]
rs465467	0.81[ASN][1000 genomes]
rs467438	0.81[ASN][1000 genomes]
rs57237835	1.00[AMR][1000 genomes]
rs58170129	1.00[AMR][1000 genomes]
rs60805058	1.00[AMR][1000 genomes]
rs704032	0.94[ASN][1000 genomes]
rs704033	0.94[ASN][1000 genomes]
rs837100	1.00[ASN][1000 genomes]
rs837102	0.83[ASN][1000 genomes]
rs837105	1.00[ASN][1000 genomes]
rs837119	0.87[ASN][1000 genomes]
rs837267	1.00[ASN][1000 genomes]
rs837279	0.94[ASN][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	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
4	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 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	chr5:40800200-40808200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40800200-40808400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:40800600-40808200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:40804000-40808200	Weak transcription	K562	blood

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