Variant report

Variant	rs11996121
Chromosome Location	chr8:49976684-49976685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10504074	0.85[AMR][1000 genomes]
rs13439096	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509090	1.00[ASN][1000 genomes]
rs16939320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939468	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6989626	0.91[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992736	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003799	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009653	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73579344	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73579346	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73579377	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73579384	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73579385	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813871	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821013	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7829947	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844223	0.91[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49972000-49977800	Weak transcription	Psoas Muscle	Psoas
2	chr8:49974600-49979600	Enhancers	Adipose Nuclei	Adipose
3	chr8:49975200-49978400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:49975200-49978600	Enhancers	Hela-S3	cervix
5	chr8:49975600-49978200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:49976400-49977000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:49976400-49978000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:49976600-49977000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:49976600-49977000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:49976600-49979400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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