Variant report

Variant	rs17357294
Chromosome Location	chr5:112004990-112004991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1372220	0.82[EUR][1000 genomes]
rs17285372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17285827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17286230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359859	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360045	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17360289	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55684649	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55771959	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56052440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194248	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56218335	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56235416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320268	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56328836	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73216225	1.00[EUR][1000 genomes]
rs7704566	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7730944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112004600-112005600	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr5:112004600-112006200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112004800-112005000	Enhancers	Brain Anterior Caudate	brain
4	chr5:112004800-112005200	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr5:112004800-112005600	Enhancers	Brain Angular Gyrus	brain
6	chr5:112004800-112005600	Enhancers	Fetal Brain Male	brain
7	chr5:112004800-112005800	Enhancers	Brain Hippocampus Middle	brain
8	chr5:112004800-112005800	Enhancers	Brain Substantia Nigra	brain
9	chr5:112004800-112007800	Enhancers	Cortex derived primary cultured neurospheres	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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