Variant report

Variant	rs1065497
Chromosome Location	chr22:29279991-29279992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:
2	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:
3	chr22:29137399..29139735-chr22:29278518..29281229,2	MCF-7	breast:
4	chr22:29277854..29280834-chr3:15899899..15902425,2	MCF-7	breast:
5	chr22:29194507..29196726-chr22:29278986..29282462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177993	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000206560	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1318025	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1318026	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs132528	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs132529	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs132531	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs132533	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs132536	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs132543	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs132548	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2015500	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2064261	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs469990	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs469991	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs469992	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5752826	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5762870	0.84[ASN][1000 genomes]
rs5762874	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5762877	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5762880	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5762881	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5762882	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5997412	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6005936	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6519766	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs715531	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7287918	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8137262	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8142067	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9620841	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9625619	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	esv3360361	chr22:29278452-29281300	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3379535	chr22:29278477-29281525	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3397718	chr22:29278952-29280850	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1065497	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29278400-29280400	Active TSS	Brain Cingulate Gyrus	brain
2	chr22:29278600-29280000	Active TSS	Colonic Mucosa	Colon
3	chr22:29278600-29280400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:29278600-29280400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:29278600-29280400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:29278600-29280400	Active TSS	Fetal Brain Female	brain
7	chr22:29278600-29280400	Active TSS	Psoas Muscle	Psoas
8	chr22:29278600-29280400	Active TSS	HSMMtube	muscle
9	chr22:29278600-29280400	Active TSS	NH-A	brain
10	chr22:29278600-29280600	Active TSS	Ovary	ovary
11	chr22:29278600-29281200	Active TSS	Aorta	Aorta
12	chr22:29278600-29281200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr22:29278600-29281600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:29278600-29282600	Active TSS	Brain Anterior Caudate	brain
15	chr22:29278800-29280200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr22:29278800-29280200	Active TSS	Spleen	Spleen
17	chr22:29278800-29280400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:29278800-29280400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:29278800-29280400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:29278800-29280400	Active TSS	Brain Substantia Nigra	brain
21	chr22:29278800-29280400	Active TSS	Lung	lung
22	chr22:29278800-29280400	Active TSS	Placenta Amnion	Placenta Amnion
23	chr22:29278800-29280400	Active TSS	Rectal Smooth Muscle	rectum
24	chr22:29278800-29280400	Active TSS	Hela-S3	cervix
25	chr22:29278800-29280400	Active TSS	NHLF	lung
26	chr22:29278800-29280600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr22:29278800-29280800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr22:29278800-29280800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr22:29278800-29280800	Active TSS	A549	lung
30	chr22:29278800-29281000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr22:29278800-29281200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:29278800-29281200	Active TSS	HSMM	muscle
33	chr22:29278800-29281600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr22:29278800-29281800	Active TSS	Fetal Kidney	kidney
35	chr22:29279000-29280200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:29279000-29280200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:29279000-29280200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:29279000-29280200	Active TSS	Placenta	Placenta
39	chr22:29279000-29280200	Active TSS	Fetal Stomach	stomach
40	chr22:29279000-29280200	Active TSS	Right Ventricle	heart
41	chr22:29279000-29280200	Active TSS	HepG2	liver
42	chr22:29279000-29280400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr22:29279000-29280400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr22:29279000-29280400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr22:29279000-29280400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:29279000-29280400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:29279000-29280400	Active TSS	Liver	Liver
48	chr22:29279000-29280400	Active TSS	Brain Hippocampus Middle	brain
49	chr22:29279000-29280400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr22:29279000-29280400	Active TSS	Duodenum Mucosa	Duodenum

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