Variant report

Variant	rs9621516
Chromosome Location	chr22:33032952-33032953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13340090	0.81[AFR][1000 genomes]
rs2051569	0.86[ASN][1000 genomes]
rs2157168	0.85[ASN][1000 genomes]
rs2710348	0.88[ASN][1000 genomes]
rs58208983	0.82[ASN][1000 genomes]
rs60022533	0.80[AFR][1000 genomes]
rs67485432	0.86[ASN][1000 genomes]
rs738994	0.81[AFR][1000 genomes]
rs8135117	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8136042	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8137407	0.81[AFR][1000 genomes]
rs8139704	0.81[AFR][1000 genomes]
rs8139932	0.83[AFR][1000 genomes]
rs9609603	0.93[ASN][1000 genomes]
rs9619281	0.81[AFR][1000 genomes]
rs9621513	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9621515	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988670	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33025400-33033200	Weak transcription	Fetal Kidney	kidney
2	chr22:33029000-33039200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr22:33029200-33036000	Weak transcription	Fetal Stomach	stomach
4	chr22:33030800-33033400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:33031000-33040000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:33032000-33033200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:33032400-33033400	Enhancers	HepG2	liver
8	chr22:33032400-33033600	Enhancers	Fetal Thymus	thymus
9	chr22:33032600-33033200	Enhancers	Placenta	Placenta
10	chr22:33032600-33033400	Enhancers	Fetal Muscle Leg	muscle
11	chr22:33032600-33033600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:33032800-33033200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:33032800-33033200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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