Variant report

Variant	rs1517195
Chromosome Location	chr12:118045862-118045863
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10850859	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11068551	0.81[CEU][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs11068571	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11068579	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11068580	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1517202	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2393237	0.81[EUR][1000 genomes]
rs7131858	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7316550	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7967918	0.91[AMR][1000 genomes];0.91[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	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1517195	KSR2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118044600-118046000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:118045000-118046000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:118045800-118051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:118045800-118051400	Weak transcription	iPS DF 19.11 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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