Variant report

Variant	rs57614295
Chromosome Location	chr22:31238248-31238249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55858102	1.00[ASN][1000 genomes]
rs56104306	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56127349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57021529	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58198077	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58511316	1.00[ASN][1000 genomes]
rs58832459	1.00[ASN][1000 genomes]
rs58902211	0.84[ASN][1000 genomes]
rs59786430	0.84[ASN][1000 genomes]
rs60486108	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61467505	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7284316	0.81[AFR][1000 genomes]
rs7284605	1.00[ASN][1000 genomes]
rs73402268	1.00[ASN][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv522377	chr22:31232074-31249333	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv914973	chr22:31232074-31264281	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31229400-31238800	Weak transcription	HSMM	muscle
2	chr22:31236000-31240000	Enhancers	Hela-S3	cervix
3	chr22:31236200-31239400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:31236400-31238400	Enhancers	Brain Anterior Caudate	brain
5	chr22:31236400-31238400	Enhancers	HMEC	breast
6	chr22:31236400-31238600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:31236400-31241400	Enhancers	Placenta	Placenta
8	chr22:31236800-31239400	Weak transcription	A549	lung
9	chr22:31237400-31238400	Enhancers	Brain Angular Gyrus	brain
10	chr22:31238000-31238400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr22:31238200-31238400	Genic enhancers	NHEK	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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