Variant report

Variant	rs73053466
Chromosome Location	chr7:12721754-12721755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12717166..12722121-chr7:12722819..12730099,9	K562	blood:
2	chr7:12719551..12722196-chr7:12724223..12726229,2	MCF-7	breast:
3	chr7:12703819..12706185-chr7:12719994..12722321,2	K562	blood:

Variant related genes	Relation type
ENSG00000271253	Chromatin interaction
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12699414	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13221298	0.94[AMR][1000 genomes]
rs13221458	0.94[AMR][1000 genomes]
rs13222937	0.94[AMR][1000 genomes]
rs13224178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13224841	0.88[AMR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13244046	0.94[AMR][1000 genomes]
rs17616248	1.00[AFR][1000 genomes]
rs17616514	1.00[AFR][1000 genomes]
rs34250068	0.94[AMR][1000 genomes]
rs34452532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34539754	1.00[AFR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes]
rs34811312	0.94[AMR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35091099	0.94[AMR][1000 genomes]
rs35268481	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35908302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55831963	0.94[AMR][1000 genomes]
rs56031342	0.94[AMR][1000 genomes]
rs56178138	0.94[AMR][1000 genomes]
rs56246037	1.00[AFR][1000 genomes]
rs66620565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66931243	0.94[AMR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71536892	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73048799	0.94[AMR][1000 genomes]
rs73053419	0.94[AMR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73055421	0.83[AMR][1000 genomes]
rs73055427	1.00[AFR][1000 genomes]
rs73055444	1.00[AFR][1000 genomes]
rs73055447	1.00[AFR][1000 genomes]
rs73055475	1.00[AFR][1000 genomes]
rs73055491	1.00[AFR][1000 genomes]
rs892714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
8	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 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	chr7:12718200-12723800	Weak transcription	Placenta	Placenta
2	chr7:12720200-12722000	Enhancers	HepG2	liver
3	chr7:12721000-12721800	Enhancers	A549	lung
4	chr7:12721000-12725200	Weak transcription	K562	blood
5	chr7:12721600-12726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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