Variant report

Variant	rs11211477
Chromosome Location	chr1:47666009-47666010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1419051	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2181222	0.81[CHB][hapmap]
rs2181223	0.82[JPT][hapmap]
rs2249636	0.86[CHB][hapmap]
rs2250495	0.81[CHB][hapmap]
rs2821083	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2821084	0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2821085	0.87[AMR][1000 genomes];0.86[ASN][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	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11211477	CYP4A11	cis	parietal	SCAN
rs11211477	BEST4	cis	cerebellum	SCAN
rs11211477	CDKN2C	cis	parietal	SCAN
rs11211477	STIL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47659000-47675800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:47660000-47666600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:47664400-47667000	Enhancers	HSMMtube	muscle
4	chr1:47664600-47676000	Weak transcription	K562	blood
5	chr1:47665600-47667000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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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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