Variant report

Variant	rs56360627
Chromosome Location	chr22:29849982-29849983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56166000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56255240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56344321	1.00[AMR][1000 genomes]
rs60550593	1.00[AFR][1000 genomes]
rs60759347	1.00[AMR][1000 genomes]
rs61098773	0.83[AFR][1000 genomes]
rs61310930	1.00[AMR][1000 genomes]
rs73881514	1.00[AFR][1000 genomes]
rs73881518	1.00[AFR][1000 genomes]
rs73881519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881546	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr22:29834200-29850200	Weak transcription	Ovary	ovary
2	chr22:29836000-29859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:29836200-29863200	Weak transcription	Fetal Brain Female	brain
4	chr22:29836600-29866000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:29844200-29856000	Weak transcription	Brain Angular Gyrus	brain
6	chr22:29845000-29856000	Weak transcription	Fetal Stomach	stomach
7	chr22:29846600-29852200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:29847400-29864800	Weak transcription	Brain Germinal Matrix	brain
9	chr22:29849800-29850600	Strong transcription	Fetal Intestine Small	intestine
10	chr22:29849800-29850600	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:29849800-29850800	Enhancers	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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