Variant report

Variant	rs56047253
Chromosome Location	chr7:19606982-19606983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1029997	0.83[AMR][1000 genomes]
rs2024351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2110475	0.83[AMR][1000 genomes]
rs2191937	1.00[AFR][1000 genomes]
rs55636047	1.00[AFR][1000 genomes]
rs55658738	1.00[EUR][1000 genomes]
rs55733941	1.00[EUR][1000 genomes]
rs55745073	0.83[AMR][1000 genomes]
rs55798906	0.88[EUR][1000 genomes]
rs55828356	0.85[AMR][1000 genomes]
rs55835241	0.83[AMR][1000 genomes]
rs55871349	1.00[EUR][1000 genomes]
rs55941254	0.83[AMR][1000 genomes]
rs55984465	1.00[AMR][1000 genomes]
rs55996046	0.83[AMR][1000 genomes]
rs56051858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56061124	0.83[AMR][1000 genomes]
rs56089097	1.00[AFR][1000 genomes]
rs56104650	1.00[AFR][1000 genomes]
rs56236236	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56355539	1.00[EUR][1000 genomes]
rs59529630	1.00[EUR][1000 genomes]
rs62454500	1.00[AFR][1000 genomes]
rs62454501	1.00[AFR][1000 genomes]
rs6954559	1.00[AMR][1000 genomes]
rs6955902	0.83[AMR][1000 genomes]
rs6963505	1.00[AMR][1000 genomes]
rs6966854	1.00[AFR][1000 genomes]
rs6975880	0.83[AMR][1000 genomes]
rs6979888	1.00[AMR][1000 genomes]
rs73072922	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73072932	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73072934	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73072937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73074934	0.83[AMR][1000 genomes]
rs73074936	0.83[AMR][1000 genomes]
rs73074937	0.83[AMR][1000 genomes]
rs73074938	0.83[AMR][1000 genomes]
rs73074939	0.83[AMR][1000 genomes]
rs73074946	0.83[AMR][1000 genomes]
rs73074951	0.83[AMR][1000 genomes]
rs73077073	0.83[AMR][1000 genomes]
rs73077074	0.83[AMR][1000 genomes]
rs73077079	0.83[AMR][1000 genomes]
rs73083218	0.83[AMR][1000 genomes]
rs73083220	0.83[AMR][1000 genomes]
rs73083222	0.83[AMR][1000 genomes]
rs73084653	0.83[AMR][1000 genomes]
rs73084656	0.85[AMR][1000 genomes]
rs73084660	1.00[AMR][1000 genomes]
rs73084662	1.00[AMR][1000 genomes]
rs73084671	1.00[AMR][1000 genomes]
rs73084690	1.00[AMR][1000 genomes]
rs73086604	1.00[AMR][1000 genomes]
rs73086607	1.00[AMR][1000 genomes]
rs73086615	1.00[AFR][1000 genomes]
rs73086629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086634	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73086640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73086644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73086652	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73086653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73086657	1.00[AFR][1000 genomes]
rs73086681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73086687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs763530	0.92[EUR][1000 genomes]
rs7803523	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887819	chr7:19262091-19658389	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2752996	chr7:19392086-19684019	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759517	chr7:19396146-19620962	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2758107	chr7:19436043-19620962	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2752153	chr7:19509002-19620651	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887824	chr7:19524863-19687779	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv887825	chr7:19536977-19615992	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1026185	chr7:19564488-19612246	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1016344	chr7:19574677-19654624	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1032609	chr7:19575555-19654624	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1021494	chr7:19589814-19610128	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19602000-19607200	Weak transcription	HSMM	muscle
2	chr7:19602400-19618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:19606200-19607400	Enhancers	Osteobl	bone

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