Variant report

Variant	rs72890370
Chromosome Location	chr2:183957799-183957800
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183601411..183603904-chr2:183956963..183959592,2	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1473614	0.94[EUR][1000 genomes]
rs1473615	0.94[EUR][1000 genomes]
rs1473616	0.94[EUR][1000 genomes]
rs2675053	0.87[EUR][1000 genomes]
rs2675054	0.94[EUR][1000 genomes]
rs2705715	0.94[EUR][1000 genomes]
rs2705718	0.94[EUR][1000 genomes]
rs2705719	0.94[EUR][1000 genomes]
rs2705720	0.94[EUR][1000 genomes]
rs2705721	0.94[EUR][1000 genomes]
rs35142583	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36077496	1.00[AMR][1000 genomes]
rs55657876	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55678810	0.86[AMR][1000 genomes]
rs55696219	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55707150	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55764044	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55957340	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56152140	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56182353	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6707761	1.00[AMR][1000 genomes]
rs6712479	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6722457	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6743323	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6750392	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72886518	1.00[AMR][1000 genomes]
rs72886527	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886538	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886541	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886545	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886547	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886553	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886557	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886568	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886577	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886596	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72886600	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888431	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888449	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888452	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888461	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888464	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888472	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888474	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888478	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888481	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888488	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72888489	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72890307	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72890345	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890349	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72890352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72890353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72890384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72890398	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72892604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892631	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892638	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892656	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892689	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892694	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72892702	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894503	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894513	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894523	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894527	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894533	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894535	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894537	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894539	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894544	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894546	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894570	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894585	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894593	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72894596	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896508	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896517	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896518	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896520	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896524	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896528	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896534	0.94[EUR][1000 genomes]
rs72896555	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896556	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896558	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896559	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896560	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896567	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896581	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72896586	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72896598	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898507	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898512	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898513	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898514	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898516	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898517	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898522	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898525	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898529	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898532	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898535	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898538	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72898539	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898542	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898545	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72898548	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72898555	0.94[EUR][1000 genomes]
rs72898558	0.94[EUR][1000 genomes]
rs72898562	0.92[EUR][1000 genomes]
rs72898566	0.94[EUR][1000 genomes]
rs72898569	0.94[EUR][1000 genomes]
rs72898573	0.94[EUR][1000 genomes]
rs72898574	0.94[EUR][1000 genomes]
rs72898578	0.92[EUR][1000 genomes]
rs72898581	0.94[EUR][1000 genomes]
rs72898584	0.81[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];0.94[EUR][1000 genomes]
rs7565260	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7566497	1.00[AMR][1000 genomes]
rs7567370	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7577407	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7597417	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183944600-183963200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:183944800-183962200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:183944800-183962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:183945000-183960200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:183945000-183961800	Weak transcription	Left Ventricle	heart
6	chr2:183945000-183962600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:183945000-183963400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:183945000-183963400	Weak transcription	Fetal Stomach	stomach
9	chr2:183945600-183960800	Weak transcription	Fetal Intestine Large	intestine
10	chr2:183945600-183964000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:183945800-183972600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:183947000-183962800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:183947000-183963600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:183953200-183963600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:183954600-183959000	Weak transcription	Osteobl	bone
16	chr2:183954600-183988400	Weak transcription	Aorta	Aorta
17	chr2:183954800-183957800	Weak transcription	GM12878-XiMat	blood
18	chr2:183956000-183963600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:183956200-183958400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:183956400-183958400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:183956400-183963200	Weak transcription	Ovary	ovary

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