Variant report

Variant	rs12069951
Chromosome Location	chr1:175248545-175248546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10489327	1.00[ASW][hapmap]
rs10912954	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11484650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062749	1.00[AMR][1000 genomes]
rs12071778	1.00[AMR][1000 genomes]
rs28370405	1.00[AMR][1000 genomes]
rs28455094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60033655	1.00[AMR][1000 genomes]
rs73038915	1.00[AMR][1000 genomes]
rs73041898	1.00[AMR][1000 genomes]
rs73046101	1.00[AMR][1000 genomes]
rs73047918	0.85[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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175243800-175248600	Weak transcription	Psoas Muscle	Psoas
2	chr1:175246800-175248800	Enhancers	Fetal Brain Male	brain
3	chr1:175247400-175248800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:175247800-175248600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:175248400-175248800	Enhancers	Placenta Amnion	Placenta Amnion

Quick Search:

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

what's new

Quick links