Variant report

Variant	rs2458422
Chromosome Location	chr8:105332817-105332818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12681140	0.85[AFR][1000 genomes]
rs1812214	0.81[AFR][1000 genomes]
rs2441873	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2441896	0.86[AFR][1000 genomes]
rs2458419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2458423	0.94[EUR][1000 genomes]
rs2458427	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511580	0.85[GIH][hapmap]
rs2514631	1.00[ASW][hapmap];0.90[GIH][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap]
rs2514653	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2514657	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2514658	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3039743	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4260866	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2458422	CNR1	trans	lymphoblastoid	seeQTL
rs2458422	UBR5	cis	parietal	SCAN
rs2458422	NCALD	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105328800-105337800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:105329400-105335600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:105330600-105335400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:105330800-105333800	Weak transcription	Right Atrium	heart
5	chr8:105330800-105335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:105331600-105333000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:105332000-105334000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:105332200-105335000	Enhancers	Liver	Liver
9	chr8:105332200-105340800	Weak transcription	Spleen	Spleen
10	chr8:105332400-105333000	Enhancers	Primary B cells from cord blood	blood
11	chr8:105332400-105334000	Weak transcription	K562	blood
12	chr8:105332400-105337800	Weak transcription	Fetal Thymus	thymus
13	chr8:105332600-105336200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:105332600-105337800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:105332600-105341600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:105332800-105333400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:105332800-105337800	Weak transcription	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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