Variant report

Variant	rs132528
Chromosome Location	chr22:29295898-29295899
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	chr22:29294042..29296336-chr22:29297392..29300176,2	MCF-7	breast:
2	chr22:29289506..29292443-chr22:29294897..29296592,2	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	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1318025	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1318026	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132529	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132531	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132533	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132536	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132543	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs132548	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2015500	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2064261	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs469990	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs469991	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs469992	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5752826	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762870	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762874	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762877	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5762880	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762881	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762882	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997412	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005936	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519766	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715531	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287918	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8136297	0.82[EUR][1000 genomes]
rs8137262	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8142067	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9620841	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9625619	0.95[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
rs132528	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 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	chr22:29288600-29296200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:29288600-29298600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr22:29290000-29296800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:29290800-29298400	Weak transcription	Fetal Muscle Leg	muscle
11	chr22:29290800-29298600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr22:29290800-29299000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr22:29291200-29300600	Weak transcription	Psoas Muscle	Psoas
14	chr22:29291400-29298400	Weak transcription	Fetal Intestine Large	intestine
15	chr22:29292000-29299000	Weak transcription	Right Atrium	heart
16	chr22:29292400-29296400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:29292400-29296600	Genic enhancers	HepG2	liver
18	chr22:29292400-29297600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:29292400-29297600	Enhancers	HMEC	breast
20	chr22:29292400-29300600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr22:29292600-29296600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr22:29292600-29296800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:29292800-29299000	Weak transcription	Brain Germinal Matrix	brain
24	chr22:29293000-29299800	Weak transcription	A549	lung
25	chr22:29293200-29296000	Weak transcription	Fetal Heart	heart
26	chr22:29293200-29296800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr22:29293200-29298400	Weak transcription	Right Ventricle	heart
28	chr22:29293200-29299000	Weak transcription	Left Ventricle	heart
29	chr22:29293400-29296200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:29293400-29296200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr22:29293400-29296400	Weak transcription	Brain Anterior Caudate	brain
32	chr22:29293400-29298600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:29293400-29298600	Weak transcription	Placenta	Placenta
34	chr22:29293400-29299000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:29293600-29299000	Weak transcription	Fetal Brain Male	brain
36	chr22:29293800-29298400	Weak transcription	Liver	Liver
37	chr22:29293800-29299000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr22:29293800-29299000	Weak transcription	Lung	lung
39	chr22:29293800-29299000	Weak transcription	Pancreas	Pancrea
40	chr22:29294200-29296000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:29294400-29296000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr22:29294400-29296200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr22:29294400-29296200	Enhancers	Primary B cells from peripheral blood	blood
44	chr22:29294400-29296600	Enhancers	HSMM	muscle
45	chr22:29294600-29296400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr22:29294600-29298800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:29294800-29296000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:29294800-29296200	Weak transcription	Aorta	Aorta
49	chr22:29295000-29296000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:29295000-29296000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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