Variant report

Variant	rs1392392
Chromosome Location	chr5:79664000-79664001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10038576	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13187742	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4467688	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4704666	0.90[LWK][hapmap]
rs6865895	0.91[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6867803	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6896247	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7703252	0.82[CEU][hapmap]
rs7709366	0.93[AMR][1000 genomes];0.95[EUR][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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv328596	chr5:79662132-79670063	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1392392	FAM151B	cis	cerebellum	SCAN
rs1392392	AGGF1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79660400-79664800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:79662200-79665200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:79663400-79664200	Enhancers	Brain Germinal Matrix	brain
4	chr5:79663400-79667000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:79663600-79664000	Enhancers	Brain Substantia Nigra	brain
6	chr5:79664000-79664400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:79664000-79664600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:79664000-79664800	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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