Variant report

Variant	rs268048
Chromosome Location	chr12:45344880-45344881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1224434	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1224438	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1224439	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1224440	0.81[EUR][1000 genomes]
rs1506677	0.80[EUR][1000 genomes]
rs1921550	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2055673	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2055674	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2643136	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2643138	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2658972	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs268044	0.92[EUR][1000 genomes]
rs268046	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs268047	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2710419	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2710452	0.80[EUR][1000 genomes]
rs370814	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs374871	0.91[EUR][1000 genomes]
rs7295673	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv527565	chr12:45319767-45365812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3407092	chr12:45342734-45368068	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs268048	NELL2	cis	Artery Tibial	GTEx
rs268048	NELL2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45344400-45345000	Active TSS	K562	blood
2	chr12:45344400-45345200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:45344600-45345000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:45344800-45345200	Active TSS	HUES6 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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