Variant report

Variant	rs12165615
Chromosome Location	chr22:28760355-28760356
allele	C/T
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:8)

rs_ID	r²[population]
rs12166350	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12168729	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13433609	1.00[AMR][1000 genomes]
rs9620782	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9620791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620795	1.00[YRI][hapmap]
rs9625458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9625497	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 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	chr22:28752800-28768600	Weak transcription	Left Ventricle	heart
2	chr22:28754800-28766000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr22:28759000-28761800	ZNF genes & repeats	Dnd41	blood
4	chr22:28759600-28763600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:28759800-28766000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:28759800-28777200	Weak transcription	Fetal Stomach	stomach
7	chr22:28760000-28761200	Weak transcription	Adipose Nuclei	Adipose
8	chr22:28760000-28766000	Weak transcription	Psoas Muscle	Psoas
9	chr22:28760000-28766000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:28760000-28771800	Weak transcription	Right Ventricle	heart
11	chr22:28760200-28761000	Weak transcription	Fetal Intestine Small	intestine
12	chr22:28760200-28768800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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