Variant report

Variant	rs2172704
Chromosome Location	chr1:220909300-220909301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11553965	1.00[AMR][1000 genomes]
rs11553966	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17008339	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2088044	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101771	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738175	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58055537	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6673650	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72472365	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7533858	1.00[AMR][1000 genomes];0.85[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	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2172704	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs2172704	C1orf115	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220906400-220921000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:220908400-220909600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:220908400-220920800	Weak transcription	Pancreas	Pancrea
4	chr1:220908600-220912600	Weak transcription	Liver	Liver

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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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