Variant report

Variant	rs12170231
Chromosome Location	chr22:29237824-29237825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10427628	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13058460	0.82[ASN][1000 genomes]
rs5752808	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752810	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752814	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752815	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762826	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762829	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762835	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762838	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762839	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762852	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762855	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762858	0.83[EUR][1000 genomes]
rs5997409	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997410	0.84[AMR][1000 genomes]
rs6005917	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625591	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625595	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625600	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv979608	chr22:29233930-29240181	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12170231	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29214800-29242200	Weak transcription	Aorta	Aorta
2	chr22:29216000-29238600	Weak transcription	Spleen	Spleen
3	chr22:29225400-29242000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:29226000-29248800	Weak transcription	Primary T cells from cord blood	blood
5	chr22:29226200-29239600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:29226200-29242800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:29226600-29241800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:29226600-29242200	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:29229400-29241800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:29231200-29239200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:29234000-29251600	Weak transcription	Fetal Lung	lung
12	chr22:29235200-29243200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29236400-29238800	Weak transcription	Fetal Intestine Small	intestine
14	chr22:29236800-29239000	Weak transcription	Right Atrium	heart
15	chr22:29237800-29240000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr22:29237800-29240600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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