Variant report

Variant	rs57249217
Chromosome Location	chr5:98283962-98283963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1007453	0.88[AFR][1000 genomes]
rs10515285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17166461	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17166471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17166564	0.85[AFR][1000 genomes]
rs3860806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55654090	0.94[AFR][1000 genomes]
rs57253975	0.94[AFR][1000 genomes]
rs58477983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60298381	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61515191	0.94[AFR][1000 genomes]
rs6864720	0.89[AFR][1000 genomes]
rs731496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153574	0.81[AFR][1000 genomes]
rs73153600	0.89[AFR][1000 genomes]
rs73155410	0.81[AFR][1000 genomes]
rs73155434	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73155446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73155478	0.94[AFR][1000 genomes]
rs73155484	0.84[AFR][1000 genomes]
rs73155486	0.83[AFR][1000 genomes]
rs73157407	0.94[AFR][1000 genomes]
rs73157426	0.94[AFR][1000 genomes]
rs73776061	0.88[AFR][1000 genomes]
rs7707061	0.81[AFR][1000 genomes]
rs7732611	0.98[AFR][1000 genomes]
rs963689	0.90[AFR][1000 genomes]

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	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98266600-98291400	Weak transcription	Brain Germinal Matrix	brain
2	chr5:98274800-98297200	Weak transcription	Thymus	Thymus
3	chr5:98278600-98299400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:98279400-98298400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:98282600-98290400	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:98283800-98285000	Weak transcription	K562	blood
7	chr5:98283800-98293800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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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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