Variant report

Variant	rs5762852
Chromosome Location	chr22:29242473-29242474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29240838..29243251-chr22:29245556..29247138,2	K562	blood:
2	chr22:29239636..29243251-chr22:29245556..29248104,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10154819	0.80[ASN][1000 genomes]
rs10427628	0.83[EUR][1000 genomes]
rs12170231	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1222	0.83[CEU][hapmap]
rs13058031	0.83[CEU][hapmap]
rs13058460	0.92[ASN][1000 genomes]
rs16986825	1.00[YRI][hapmap]
rs16986838	1.00[YRI][hapmap]
rs17514713	1.00[YRI][hapmap]
rs2267131	0.83[CEU][hapmap]
rs2301428	0.83[CEU][hapmap]
rs5752803	0.83[CEU][hapmap]
rs5752808	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5752810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5752811	0.83[CEU][hapmap]
rs5752814	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5752815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762814	0.83[CEU][hapmap]
rs5762816	0.83[CEU][hapmap]
rs5762826	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762829	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762835	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762838	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762855	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762858	0.86[EUR][1000 genomes]
rs5762879	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs5997409	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005915	0.85[CEU][hapmap]
rs6005917	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs739196	1.00[YRI][hapmap]
rs9625591	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625595	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625600	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5762852	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29226000-29248800	Weak transcription	Primary T cells from cord blood	blood
2	chr22:29226200-29242800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:29234000-29251600	Weak transcription	Fetal Lung	lung
4	chr22:29235200-29243200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29241800-29242600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:29242200-29242600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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