Variant report

Variant	rs2458421
Chromosome Location	chr8:105332791-105332792
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1374526	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1447064	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1447074	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1447075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533243	0.89[AMR][1000 genomes]
rs1868012	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1966072	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2001366	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2044532	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2166643	1.00[AMR][1000 genomes]
rs2166645	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2245311	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2441833	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2441836	0.94[AMR][1000 genomes]
rs2441837	0.89[AMR][1000 genomes]
rs2441864	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441867	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2441899	0.80[EUR][1000 genomes]
rs2458420	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2511607	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2511608	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2511611	0.94[AMR][1000 genomes]
rs2511628	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2511629	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2514654	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2514655	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2514660	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs35635989	0.90[AFR][1000 genomes];0.98[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

No data

Chromatin state (count:16 , 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	chr8:105331800-105332800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr8:105332000-105334000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:105332200-105335000	Enhancers	Liver	Liver
10	chr8:105332200-105340800	Weak transcription	Spleen	Spleen
11	chr8:105332400-105333000	Enhancers	Primary B cells from cord blood	blood
12	chr8:105332400-105334000	Weak transcription	K562	blood
13	chr8:105332400-105337800	Weak transcription	Fetal Thymus	thymus
14	chr8:105332600-105336200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:105332600-105337800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:105332600-105341600	Weak transcription	Primary B cells from peripheral blood	blood

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