Variant report

Variant	rs5762863
Chromosome Location	chr22:29253335-29253336
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29193593..29195791-chr22:29251610..29254228,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10222249	0.80[EUR][1000 genomes]
rs12628211	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2097461	0.83[ASN][1000 genomes]
rs2239815	0.85[ASN][1000 genomes]
rs2269577	0.85[ASN][1000 genomes]
rs2347447	0.84[ASN][1000 genomes]
rs2881635	0.83[ASN][1000 genomes]
rs35259224	0.87[ASN][1000 genomes]
rs3788409	0.85[ASN][1000 genomes]
rs5752795	0.84[ASN][1000 genomes]
rs5752798	0.84[ASN][1000 genomes]
rs5752804	0.83[ASN][1000 genomes]
rs5752807	0.87[ASN][1000 genomes]
rs5752809	0.87[ASN][1000 genomes]
rs5752812	0.87[ASN][1000 genomes]
rs5752813	0.85[ASN][1000 genomes]
rs5762784	0.83[ASN][1000 genomes]
rs5762788	0.83[ASN][1000 genomes]
rs5762795	0.84[ASN][1000 genomes]
rs5762803	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762815	0.86[ASN][1000 genomes]
rs5762824	0.87[ASN][1000 genomes]
rs5762825	0.87[ASN][1000 genomes]
rs5762853	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762854	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5762859	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762861	0.81[EUR][1000 genomes]
rs5762862	0.81[EUR][1000 genomes]
rs5762864	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762867	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997408	0.86[ASN][1000 genomes]
rs6005867	0.84[ASN][1000 genomes]
rs6005872	0.84[ASN][1000 genomes]
rs6005881	0.84[ASN][1000 genomes]
rs6005892	0.83[ASN][1000 genomes]
rs6005915	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6005916	0.88[ASN][1000 genomes]
rs6005927	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6005929	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6005930	0.93[AFR][1000 genomes]
rs7287124	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7287806	0.86[ASN][1000 genomes]
rs763073	0.86[ASN][1000 genomes]
rs8137969	0.87[ASN][1000 genomes]
rs9625588	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5762863	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29251400-29253600	Enhancers	HepG2	liver
2	chr22:29252200-29253400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:29252400-29253400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr22:29252400-29254200	Weak transcription	Liver	Liver
5	chr22:29252400-29261000	Weak transcription	Fetal Intestine Small	intestine
6	chr22:29253000-29254400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr22:29253200-29253400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr22:29253200-29253600	Enhancers	Skeletal Muscle Female	skeletal muscle

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