Variant report

Variant	rs5997412
Chromosome Location	chr22:29276747-29276748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:29276737-29276809	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr22:29276741-29276779	GM19239	blood:	n/a	n/a
3	CTCF	chr22:29276714-29276841	MCF-7	breast:	n/a	n/a
4	CTCF	chr22:29276728-29276800	MCF-7	breast:	n/a	n/a
5	CTCF	chr22:29276720-29276870	HepG2	liver:	n/a	n/a
6	CTCF	chr22:29276744-29276832	MCF-7	breast:	n/a	n/a
7	CTCF	chr22:29276738-29276809	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:29210544..29212146-chr22:29276530..29279392,2	MCF-7	breast:
2	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:
3	chr22:29274825..29277296-chr22:29277384..29279241,2	K562	blood:
4	chr22:29269063..29271237-chr22:29276306..29278177,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNRF3	TF binding region
ENSG00000177993	Chromatin interaction
ENSG00000272858	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1065497	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1318025	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1318026	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132528	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132529	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132531	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132533	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132536	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132543	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs132548	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2015500	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2064261	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469990	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs469991	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs469992	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5752826	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762870	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762874	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762877	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5762880	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762881	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762882	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6005936	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519766	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715531	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287918	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8137262	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8142067	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620841	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9625619	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5997412	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29266200-29278400	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29271200-29276800	Weak transcription	HepG2	liver
3	chr22:29274000-29278400	Weak transcription	Liver	Liver
4	chr22:29274200-29278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:29274800-29278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:29276000-29276800	Enhancers	Fetal Muscle Leg	muscle
7	chr22:29276200-29278400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr22:29276200-29278400	Weak transcription	Brain Angular Gyrus	brain
9	chr22:29276400-29278200	Weak transcription	Fetal Heart	heart
10	chr22:29276400-29278400	Weak transcription	Stomach Mucosa	stomach
11	chr22:29276600-29276800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:29276600-29278400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:29276600-29278600	Weak transcription	HSMMtube	muscle

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