Variant report

Variant	rs575030
Chromosome Location	chr11:121092398-121092399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11218210	0.80[AFR][1000 genomes]
rs12278487	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2155365	0.81[CEU][hapmap]
rs22298	0.82[GIH][hapmap];0.86[TSI][hapmap]
rs481703	0.86[CEU][hapmap]
rs4935763	0.80[EUR][1000 genomes]
rs4936593	0.80[EUR][1000 genomes]
rs552580	0.86[CEU][hapmap];0.86[TSI][hapmap]
rs618523	0.86[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs620896	0.86[CEU][hapmap];0.87[GIH][hapmap];0.86[TSI][hapmap]
rs631969	0.82[EUR][1000 genomes]
rs6589863	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs662496	0.86[CEU][hapmap]
rs663435	0.86[CEU][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap]
rs688641	0.86[CEU][hapmap]

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	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs575030	HINFP	cis	cerebellum	SCAN
rs575030	CD3G	cis	cerebellum	SCAN
rs575030	VPS11	cis	cerebellum	SCAN
rs575030	FXYD6	cis	cerebellum	SCAN
rs575030	H2AFX	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121091800-121092400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon

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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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