Variant report

Variant	rs6488877
Chromosome Location	chr12:124023671-124023672
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124015786..124020200-chr12:124020787..124024805,6	K562	blood:
2	chr12:124014613..124020427-chr12:124021757..124030921,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1056132	0.86[ASN][1000 genomes]
rs12809853	0.86[ASN][1000 genomes]
rs12829500	0.86[ASN][1000 genomes]
rs13302918	0.83[ASN][1000 genomes]
rs1533246	0.85[EUR][1000 genomes]
rs16917551	0.86[ASN][1000 genomes]
rs2333832	0.87[EUR][1000 genomes]
rs28492040	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28604461	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28647680	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28833471	0.83[ASN][1000 genomes]
rs34734800	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35016092	0.89[EUR][1000 genomes]
rs35064645	0.86[ASN][1000 genomes]
rs4930704	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930709	0.86[ASN][1000 genomes]
rs4930712	0.86[ASN][1000 genomes]
rs4930717	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56213464	0.86[ASN][1000 genomes]
rs61953540	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61953541	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488878	0.90[EUR][1000 genomes]
rs66494087	0.86[ASN][1000 genomes]
rs71458808	0.86[ASN][1000 genomes]
rs7303956	0.85[EUR][1000 genomes]
rs7309292	0.86[ASN][1000 genomes]
rs7313207	0.86[ASN][1000 genomes]
rs7313751	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398935	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953876	0.86[ASN][1000 genomes]
rs7956299	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959714	0.89[EUR][1000 genomes]
rs7962151	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963804	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979561	0.86[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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124019400-124023800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124019400-124028200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:124023600-124024200	Enhancers	HepG2	liver

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