Variant report

Variant	rs3122551
Chromosome Location	chr1:56247216-56247217
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs17113002	0.86[ASN][1000 genomes]
rs1926910	0.94[EUR][1000 genomes]
rs3122553	1.00[EUR][1000 genomes]
rs3122554	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4357568	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4927265	1.00[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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3122551	ANTXR1	trans	cerebellum	SCAN
rs3122551	ZSWIM1	trans	lymphoblastoid	RTeQTL
rs3122551	ZYG11A	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56242600-56247400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:56243200-56247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:56246800-56248400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:56246800-56248600	Enhancers	Colon Smooth Muscle	Colon
5	chr1:56246800-56248800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:56246800-56248800	Enhancers	Hela-S3	cervix
7	chr1:56247000-56248200	Enhancers	Fetal Intestine Large	intestine
8	chr1:56247200-56247600	Enhancers	Fetal Intestine Small	intestine
9	chr1:56247200-56248400	Enhancers	NHDF-Ad	bronchial
10	chr1:56247200-56248600	Enhancers	Rectal Smooth Muscle	rectum

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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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