Variant report

Variant	rs72890398
Chromosome Location	chr2:183970147-183970148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183967945..183970518-chr2:183975860..183978004,2	K562	blood:
2	chr2:183970085..183972201-chr2:183987942..183989595,2	MCF-7	breast:
3	chr2:183961564..183963218-chr2:183968375..183970375,2	K562	blood:

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1473614	0.92[EUR][1000 genomes]
rs1473615	0.92[EUR][1000 genomes]
rs1473616	0.92[EUR][1000 genomes]
rs2675053	0.84[EUR][1000 genomes]
rs2675054	0.92[EUR][1000 genomes]
rs2705715	0.92[EUR][1000 genomes]
rs2705718	0.92[EUR][1000 genomes]
rs2705719	0.92[EUR][1000 genomes]
rs2705720	0.92[EUR][1000 genomes]
rs2705721	0.92[EUR][1000 genomes]
rs35142583	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55657876	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55678810	0.86[AMR][1000 genomes]
rs55696219	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55707150	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55764044	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55957340	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56152140	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56182353	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6707761	1.00[AMR][1000 genomes]
rs6712479	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6722457	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6743323	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6750392	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72886518	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72886527	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886538	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886541	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886545	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886547	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886553	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886557	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886568	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886577	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886596	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72886600	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888431	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888449	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888452	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888461	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888464	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888472	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888474	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888478	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888481	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888488	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72888489	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72890307	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72890345	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72890349	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890352	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890353	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890370	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72890384	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72890392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72892631	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72892638	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892656	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892689	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892694	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892702	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894503	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894513	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894523	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894527	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894533	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894535	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894537	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894539	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894544	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894546	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894570	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894585	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894593	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72894596	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896508	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896517	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896518	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896520	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896524	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896528	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896534	0.92[EUR][1000 genomes]
rs72896555	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896556	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896558	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896559	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896560	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896567	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896581	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896586	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72896598	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898507	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898512	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898513	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898514	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898516	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898517	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898522	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898525	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898529	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898532	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898535	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898538	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72898539	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898542	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898545	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898548	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898555	0.92[EUR][1000 genomes]
rs72898558	0.92[EUR][1000 genomes]
rs72898562	0.89[EUR][1000 genomes]
rs72898566	0.92[EUR][1000 genomes]
rs72898569	0.92[EUR][1000 genomes]
rs72898573	0.92[EUR][1000 genomes]
rs72898574	0.92[EUR][1000 genomes]
rs72898578	0.89[EUR][1000 genomes]
rs72898581	0.92[EUR][1000 genomes]
rs72898600	0.86[AMR][1000 genomes]
rs72900543	0.86[AMR][1000 genomes]
rs72900766	1.00[AMR][1000 genomes]
rs72900772	1.00[AMR][1000 genomes]
rs72900775	1.00[AMR][1000 genomes]
rs72900780	1.00[AMR][1000 genomes]
rs7562034	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7565260	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7567370	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7577407	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7597417	0.87[AMR][1000 genomes];0.92[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183945800-183972600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:183954600-183988400	Weak transcription	Aorta	Aorta
3	chr2:183959400-183970200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:183968200-183970600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:183969800-183970800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:183969800-183970800	Enhancers	Hela-S3	cervix
7	chr2:183969800-183971000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:183970000-183970600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:183970000-183970600	Enhancers	HMEC	breast
10	chr2:183970000-183970600	Enhancers	HSMM	muscle
11	chr2:183970000-183970800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:183970000-183970800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:183970000-183970800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:183970000-183971000	Enhancers	A549	lung

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