Variant report

Variant	rs2484702
Chromosome Location	chr1:221129684-221129685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11118627	1.00[EUR][1000 genomes]
rs11118629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1932477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2807882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2992648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2992651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3013555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs715677	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221126400-221132400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:221126600-221131600	Enhancers	HSMM	muscle
3	chr1:221126600-221131600	Enhancers	HSMMtube	muscle
4	chr1:221126600-221132600	Enhancers	NHDF-Ad	bronchial
5	chr1:221126800-221130600	Weak transcription	K562	blood
6	chr1:221127600-221132000	Enhancers	Osteobl	bone
7	chr1:221128800-221132400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:221129000-221130400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:221129000-221132400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:221129000-221132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:221129600-221130400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:221129600-221131600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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Input of quick search could be:

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

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