Variant report

Variant	rs10516448
Chromosome Location	chr4:100552525-100552526
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10516450	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17529530	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17532601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17532992	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17588761	1.00[AMR][1000 genomes]
rs17599091	1.00[EUR][1000 genomes]
rs17600332	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1969098	1.00[AMR][1000 genomes]
rs1982248	1.00[AMR][1000 genomes]
rs2218295	1.00[AMR][1000 genomes]
rs41275713	1.00[EUR][1000 genomes]
rs41275721	1.00[EUR][1000 genomes]
rs7654460	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10516448	IFI27	trans	lymphoblastoid	seeQTL
rs10516448	PLOD2	trans	lymphoblastoid	seeQTL
rs10516448	BCHE	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100538200-100556000	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:100544000-100553200	Weak transcription	Psoas Muscle	Psoas
3	chr4:100546000-100561200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:100546200-100553800	Weak transcription	Liver	Liver
5	chr4:100551400-100555200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:100551600-100552800	Enhancers	Fetal Intestine Small	intestine
7	chr4:100551600-100554000	Weak transcription	HMEC	breast
8	chr4:100551800-100554400	Weak transcription	NHEK	skin
9	chr4:100552200-100553200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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