Variant report

Variant	rs72892638
Chromosome Location	chr2:183982428-183982429
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183942521..183944578-chr2:183980527..183982888,2	K562	blood:
2	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
3	chr2:183981717..183985228-chr2:183986533..183989454,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction
ENSG00000162999	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1473614	1.00[EUR][1000 genomes]
rs1473615	1.00[EUR][1000 genomes]
rs1473616	1.00[EUR][1000 genomes]
rs2675053	0.92[EUR][1000 genomes]
rs2675054	1.00[EUR][1000 genomes]
rs2705715	1.00[EUR][1000 genomes]
rs2705718	1.00[EUR][1000 genomes]
rs2705719	1.00[EUR][1000 genomes]
rs2705720	1.00[EUR][1000 genomes]
rs2705721	1.00[EUR][1000 genomes]
rs35142583	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55657876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678810	0.86[AMR][1000 genomes]
rs55696219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55707150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55957340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56152140	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56182353	0.88[EUR][1000 genomes]
rs6707761	0.87[AMR][1000 genomes]
rs6712479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743323	0.88[EUR][1000 genomes]
rs6750392	0.88[EUR][1000 genomes]
rs72886518	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886527	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886538	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886541	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886545	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886547	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886553	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886557	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886568	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886577	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886596	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886600	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888431	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888449	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888452	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888461	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888464	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888472	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888474	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72888478	0.86[EUR][1000 genomes]
rs72888481	0.86[EUR][1000 genomes]
rs72888488	0.86[EUR][1000 genomes]
rs72888489	0.86[EUR][1000 genomes]
rs72890307	0.88[EUR][1000 genomes]
rs72890345	0.97[EUR][1000 genomes]
rs72890349	0.90[EUR][1000 genomes]
rs72890352	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72890353	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72890370	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72890384	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72890392	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890398	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892604	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892631	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896534	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896586	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72896598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898538	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898545	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898555	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898562	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898566	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898569	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898573	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898574	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898578	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898581	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898584	0.86[EUR][1000 genomes]
rs72898600	0.86[AMR][1000 genomes]
rs72900543	0.86[AMR][1000 genomes]
rs72900766	0.87[AMR][1000 genomes]
rs72900772	0.87[AMR][1000 genomes]
rs72900775	0.87[AMR][1000 genomes]
rs72900780	0.87[AMR][1000 genomes]
rs7562034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7567370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7597417	1.00[AMR][1000 genomes];1.00[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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3356302	chr2:183962495-183989877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183954600-183988400	Weak transcription	Aorta	Aorta
2	chr2:183982400-183983600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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