Variant report

Variant	rs4730546
Chromosome Location	chr7:112074598-112074599
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	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
2	chr7:112070004..112076448-chr7:112089182..112092278,11	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1007587	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225540	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	1.00[ASN][1000 genomes]
rs10227934	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234996	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235364	0.86[EUR][1000 genomes]
rs10238838	0.86[EUR][1000 genomes]
rs10238839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244575	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247540	1.00[ASN][1000 genomes]
rs10248735	1.00[ASN][1000 genomes]
rs10248923	0.86[EUR][1000 genomes]
rs10249330	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249953	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252768	0.86[EUR][1000 genomes]
rs10253360	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254160	1.00[ASN][1000 genomes]
rs10257492	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257831	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258413	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264797	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266828	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269074	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270151	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275709	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276062	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276695	0.86[EUR][1000 genomes]
rs10276868	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276907	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277444	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	0.86[EUR][1000 genomes]
rs10278642	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278883	1.00[ASN][1000 genomes]
rs10279631	1.00[ASN][1000 genomes]
rs10280408	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487289	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437769	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437855	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438058	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438257	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159423	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159431	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159432	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159440	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159444	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159475	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159496	1.00[ASN][1000 genomes]
rs17159531	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159611	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159613	1.00[ASN][1000 genomes]
rs17159615	1.00[ASN][1000 genomes]
rs1989940	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2040726	0.86[EUR][1000 genomes]
rs2214434	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396535	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28402908	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407071	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563007	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566952	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594984	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602472	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654705	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712358	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718033	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28797808	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392819	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727767	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727769	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730514	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730515	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730521	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730523	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730525	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730526	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730527	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730528	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730530	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730531	1.00[ASN][1000 genomes]
rs4730534	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730535	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730537	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730538	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730545	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771476	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58514081	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60046006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317474	1.00[ASN][1000 genomes]
rs60677549	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948649	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950367	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954131	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975374	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977315	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726422	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424453	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783041	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986709	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
2	chr7:112064200-112088400	Weak transcription	Psoas Muscle	Psoas
3	chr7:112064400-112074800	Weak transcription	A549	lung
4	chr7:112065800-112079800	Weak transcription	Pancreas	Pancrea
5	chr7:112068600-112077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:112071000-112077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:112072400-112074600	Enhancers	Dnd41	blood
8	chr7:112072400-112074800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:112073600-112074800	Weak transcription	NHEK	skin
10	chr7:112073600-112075000	Weak transcription	HMEC	breast
11	chr7:112073600-112075200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:112073800-112074800	Weak transcription	HSMMtube	muscle
13	chr7:112073800-112075000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:112073800-112075000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:112073800-112075200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:112073800-112075400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:112073800-112082400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:112074000-112077200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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