Variant report

Variant	rs6539131
Chromosome Location	chr12:104644697-104644698
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	chr12:104643349..104645898-chr12:104680595..104683102,2	K562	blood:
2	chr12:104643850..104647465-chr12:104679926..104684172,5	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10735395	1.00[AFR][1000 genomes]
rs10861204	1.00[AFR][1000 genomes]
rs11111919	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11111943	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17202862	1.00[AFR][1000 genomes]
rs3935020	1.00[AFR][1000 genomes]
rs4246264	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4246271	1.00[AFR][1000 genomes]
rs4388968	0.84[EUR][1000 genomes]
rs4545635	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4630362	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4964227	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4964228	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4964257	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4964260	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4964288	1.00[AFR][1000 genomes]
rs4964727	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4964729	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4964732	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4964741	0.80[EUR][1000 genomes]
rs4964784	1.00[AFR][1000 genomes]
rs6419386	0.83[EUR][1000 genomes]
rs6539137	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7138317	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7299669	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73177977	1.00[AFR][1000 genomes]
rs73177980	1.00[AFR][1000 genomes]
rs73177982	1.00[AFR][1000 genomes]
rs73177990	1.00[AFR][1000 genomes]
rs73181916	1.00[AFR][1000 genomes]
rs73181919	1.00[AFR][1000 genomes]
rs73181926	1.00[AFR][1000 genomes]
rs73181944	1.00[AFR][1000 genomes]
rs7969604	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9738614	1.00[AFR][1000 genomes]
rs9739826	1.00[AFR][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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104642000-104648600	Weak transcription	Hela-S3	cervix
2	chr12:104643000-104646600	Enhancers	A549	lung
3	chr12:104643000-104649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:104643200-104646800	Weak transcription	K562	blood
5	chr12:104644400-104645200	Enhancers	NHDF-Ad	bronchial

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