Variant report

Variant	rs3120657
Chromosome Location	chr1:152289628-152289629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10749672	0.84[AFR][1000 genomes]
rs10888474	0.81[AFR][1000 genomes]
rs11204950	0.81[AFR][1000 genomes]
rs1466758	0.81[AFR][1000 genomes]
rs1532400	0.81[AFR][1000 genomes]
rs2036101	0.83[AFR][1000 genomes]
rs3120646	0.81[AMR][1000 genomes]
rs3120647	0.81[AMR][1000 genomes]
rs3120648	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3120649	0.81[AMR][1000 genomes]
rs3120656	0.81[AMR][1000 genomes]
rs3120658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3126064	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3126065	0.81[AMR][1000 genomes]
rs3126082	0.81[AMR][1000 genomes]
rs3134872	0.81[AMR][1000 genomes]
rs3134873	0.81[AMR][1000 genomes]
rs4548447	0.83[AFR][1000 genomes]
rs6587655	0.81[AFR][1000 genomes]
rs7523354	0.84[AFR][1000 genomes]
rs7534986	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv471348	chr1:152274651-152297679	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv998298	chr1:152288685-152319877	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152285200-152297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152286600-152322200	Weak transcription	Ovary	ovary
3	chr1:152287000-152291400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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