Variant report

Variant	rs4721971
Chromosome Location	chr7:21108437-21108438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1013309	1.00[AMR][1000 genomes]
rs10244220	1.00[EUR][1000 genomes]
rs13236745	1.00[EUR][1000 genomes]
rs1990464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2192054	1.00[EUR][1000 genomes]
rs2215681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2215682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3944038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4721970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4721973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4721985	1.00[AMR][1000 genomes]
rs6461531	1.00[EUR][1000 genomes]
rs6461533	1.00[EUR][1000 genomes]
rs6947299	1.00[AMR][1000 genomes]
rs6971050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974131	1.00[AMR][1000 genomes]
rs73279584	1.00[EUR][1000 genomes]
rs759016	1.00[AMR][1000 genomes]
rs759017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7802038	1.00[EUR][1000 genomes]
rs7804011	1.00[EUR][1000 genomes]
rs917809	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830920	chr7:21014535-21201580	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1020852	chr7:21060791-21375050	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538799	chr7:21060791-21375050	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2761308	chr7:21091931-21109257	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21105200-21111200	Weak transcription	HMEC	breast
2	chr7:21107200-21115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:21107400-21111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:21108200-21108800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:21108400-21109200	Enhancers	Fetal Lung	lung

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