Variant report

Variant	rs975238
Chromosome Location	chr12:22268523-22268524
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10770889	1.00[AMR][1000 genomes]
rs2080555	1.00[AMR][1000 genomes]
rs2098439	1.00[AMR][1000 genomes]
rs2193383	1.00[AMR][1000 genomes]
rs2909074	1.00[AMR][1000 genomes]
rs2909081	1.00[AMR][1000 genomes]
rs2955493	1.00[AMR][1000 genomes]
rs4762731	1.00[AMR][1000 genomes]
rs4762883	1.00[AMR][1000 genomes]
rs4762884	1.00[AMR][1000 genomes]
rs4762885	1.00[AMR][1000 genomes]
rs6487283	1.00[AMR][1000 genomes]
rs6487284	1.00[AMR][1000 genomes]
rs7294698	1.00[AMR][1000 genomes]
rs7297003	1.00[AMR][1000 genomes]
rs7308269	1.00[AMR][1000 genomes]
rs7316435	1.00[AMR][1000 genomes]
rs7486136	1.00[AMR][1000 genomes]
rs759585	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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv437729	chr12:22234058-22268523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 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	chr12:22256000-22271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:22268200-22268600	Enhancers	Stomach Smooth Muscle	stomach
3	chr12:22268400-22269200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:22268400-22269600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:22268400-22269600	Enhancers	Fetal Brain Male	brain

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