Variant report

Variant	rs11990285
Chromosome Location	chr8:2118618-2118619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10101831	1.00[ASN][1000 genomes]
rs10107796	0.85[EUR][1000 genomes]
rs11985641	1.00[ASN][1000 genomes]
rs1677779	1.00[ASN][1000 genomes]
rs17064796	0.82[AMR][1000 genomes]
rs17064804	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17064827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685416	0.88[EUR][1000 genomes]
rs17752630	0.88[EUR][1000 genomes]
rs2607667	1.00[ASN][1000 genomes]
rs2618837	1.00[ASN][1000 genomes]
rs315234	1.00[ASN][1000 genomes]
rs56781377	1.00[ASN][1000 genomes]
rs7002435	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73555982	0.81[AFR][1000 genomes]
rs73657722	1.00[ASN][1000 genomes]
rs7846356	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11990285	ISYNA1	trans	brain	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
2	chr8:2104600-2122200	Weak transcription	Fetal Thymus	thymus
3	chr8:2117000-2118800	Enhancers	Pancreas	Pancrea
4	chr8:2117800-2119400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:2118600-2122400	Weak transcription	Left Ventricle	heart
6	chr8:2118600-2128800	Weak transcription	Spleen	Spleen

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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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