Variant report

Variant	rs132529
Chromosome Location	chr22:29296652-29296653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29296014..29298873-chr22:29469784..29471423,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1065497	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1318025	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1318026	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132528	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132531	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132533	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132536	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132543	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs132548	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2015500	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2064261	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469990	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs469991	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs469992	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5752826	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762870	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762874	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762877	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5762880	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762881	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762882	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997412	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005936	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519766	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715531	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287918	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8136297	0.82[EUR][1000 genomes]
rs8137262	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8142067	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620841	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9625619	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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
rs132529	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29283400-29299000	Weak transcription	Fetal Stomach	stomach
2	chr22:29286000-29299000	Weak transcription	Ovary	ovary
3	chr22:29286800-29297800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:29288000-29301800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:29288400-29299000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29288400-29299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:29288600-29298600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr22:29290000-29296800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:29290800-29298400	Weak transcription	Fetal Muscle Leg	muscle
10	chr22:29290800-29298600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr22:29290800-29299000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:29291200-29300600	Weak transcription	Psoas Muscle	Psoas
13	chr22:29291400-29298400	Weak transcription	Fetal Intestine Large	intestine
14	chr22:29292000-29299000	Weak transcription	Right Atrium	heart
15	chr22:29292400-29297600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:29292400-29297600	Enhancers	HMEC	breast
17	chr22:29292400-29300600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr22:29292600-29296800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:29292800-29299000	Weak transcription	Brain Germinal Matrix	brain
20	chr22:29293000-29299800	Weak transcription	A549	lung
21	chr22:29293200-29296800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr22:29293200-29298400	Weak transcription	Right Ventricle	heart
23	chr22:29293200-29299000	Weak transcription	Left Ventricle	heart
24	chr22:29293400-29298600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:29293400-29298600	Weak transcription	Placenta	Placenta
26	chr22:29293400-29299000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:29293600-29299000	Weak transcription	Fetal Brain Male	brain
28	chr22:29293800-29298400	Weak transcription	Liver	Liver
29	chr22:29293800-29299000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr22:29293800-29299000	Weak transcription	Lung	lung
31	chr22:29293800-29299000	Weak transcription	Pancreas	Pancrea
32	chr22:29294600-29298800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:29295000-29298400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:29295200-29298800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:29295400-29298800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:29295400-29299000	Weak transcription	Spleen	Spleen
37	chr22:29295400-29299200	Weak transcription	Small Intestine	intestine
38	chr22:29295600-29296800	Strong transcription	Fetal Intestine Small	intestine
39	chr22:29295600-29297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:29295600-29298600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:29295600-29298600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:29295600-29298600	Weak transcription	Fetal Kidney	kidney
43	chr22:29295600-29298800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29295600-29298800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr22:29295600-29299000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr22:29295600-29299800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:29295600-29299800	Weak transcription	NHDF-Ad	bronchial
48	chr22:29295600-29300600	Weak transcription	Brain Substantia Nigra	brain
49	chr22:29295800-29296800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr22:29295800-29297000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links