Variant report

Variant	rs993804
Chromosome Location	chr3:25112171-25112172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6550939	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6786779	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6791983	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9310769	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9820531	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9831718	0.87[ASN][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	nsv834644	chr3:24936987-25112610	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv589955	chr3:24987823-25113358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bipolar disorder and schizophrenia	20889312	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs993804	NKIRAS1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25104600-25112200	Weak transcription	Pancreas	Pancrea
2	chr3:25111400-25115600	Weak transcription	Fetal Lung	lung
3	chr3:25111800-25112400	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:25111800-25113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:25112000-25113000	Weak transcription	Placenta Amnion	Placenta Amnion

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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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