Variant report

Variant	rs61382095
Chromosome Location	chr2:11876416-11876417
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11875528..11877148-chr2:11877418..11878938,2	MCF-7	breast:
2	chr2:11876175..11878551-chr2:11884561..11886899,2	K562	blood:
3	chr2:11869912..11872464-chr2:11874565..11877057,2	K562	blood:

Variant related genes	Relation type
ENSG00000230790	Chromatin interaction
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs11884138	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11886664	1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs55736020	1.00[EUR][1000 genomes]
rs56352405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57779431	1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59101452	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs6745921	1.00[EUR][1000 genomes]
rs6755991	1.00[AMR][1000 genomes]
rs73185109	1.00[EUR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73917124	1.00[EUR][1000 genomes]
rs73917127	1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7602962	1.00[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	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	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11874800-11878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:11875000-11878800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:11875200-11883000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:11875800-11877000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:11876000-11876800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:11876000-11878600	Weak transcription	Colonic Mucosa	Colon
7	chr2:11876000-11878600	Weak transcription	Hela-S3	cervix
8	chr2:11876200-11878600	Weak transcription	Liver	Liver
9	chr2:11876400-11877000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:11876400-11877200	Enhancers	Psoas Muscle	Psoas

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