Variant report

Variant	rs28421683
Chromosome Location	chr7:119664123-119664124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10241500	0.88[AFR][1000 genomes]
rs10249261	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10249750	0.88[AFR][1000 genomes]
rs10256198	0.88[AFR][1000 genomes]
rs10264638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10265645	0.88[AFR][1000 genomes]
rs10268575	0.88[AFR][1000 genomes]
rs10270053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10270748	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2190092	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2214762	0.84[AMR][1000 genomes]
rs6963478	0.84[AMR][1000 genomes]
rs6963590	0.84[AMR][1000 genomes]
rs6965513	0.88[AFR][1000 genomes]
rs6967227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721037	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7786155	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7791125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7806016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9886003	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470388	chr7:119464310-119790102	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2753623	chr7:119532049-119770049	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831112	chr7:119585169-119776619	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1024054	chr7:119638121-119700508	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119656400-119668400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:119661800-119665000	Weak transcription	HSMM	muscle
3	chr7:119661800-119668600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:119663200-119664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:119663400-119664400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:119663400-119664600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:119663800-119664400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:119664000-119664400	Weak transcription	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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