Variant report

Variant	rs132536
Chromosome Location	chr22:29302906-29302907
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	chr22:29302324..29303849-chr22:29306626..29308399,2	MCF-7	breast:
2	chr22:29300472..29303069-chr22:29304300..29306897,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1065497	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12165962	0.84[JPT][hapmap]
rs1318025	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1318026	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs132528	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132529	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132531	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132533	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs132543	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs132548	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2015500	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2064261	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2097461	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs2213645	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs2239815	0.89[JPT][hapmap]
rs2239828	0.92[CEU][hapmap]
rs2269577	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs2347447	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs3788409	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs469990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs469992	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4822998	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5752809	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs5752812	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs5752826	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762784	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs5762788	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs5762795	0.89[JPT][hapmap]
rs5762870	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762874	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762877	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5762880	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762881	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5762882	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762936	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs5997408	0.84[JPT][hapmap]
rs5997412	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005881	0.89[JPT][hapmap]
rs6005915	0.95[JPT][hapmap]
rs6005936	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6519766	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs715531	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7287806	0.89[JPT][hapmap]
rs7287918	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs763073	0.89[JPT][hapmap]
rs8136297	0.82[EUR][1000 genomes]
rs8137262	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8142067	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9620841	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9625619	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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
rs132536	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29296800-29310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:29298400-29308400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:29298400-29310400	Enhancers	Fetal Intestine Large	intestine
4	chr22:29298600-29304600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr22:29298600-29305000	Enhancers	Brain Anterior Caudate	brain
6	chr22:29298600-29305400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:29298800-29304400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr22:29298800-29305200	Enhancers	Brain Cingulate Gyrus	brain
9	chr22:29299000-29303000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr22:29299000-29309200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:29299200-29304400	Weak transcription	Brain Germinal Matrix	brain
12	chr22:29299600-29307000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:29299800-29303800	Enhancers	Pancreas	Pancrea
14	chr22:29300000-29303200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:29300000-29303200	Weak transcription	Gastric	stomach
16	chr22:29300000-29303600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:29300000-29307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:29300200-29303600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:29300200-29303600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:29300400-29303400	Weak transcription	Stomach Mucosa	stomach
21	chr22:29300600-29304000	Weak transcription	A549	lung
22	chr22:29300800-29303000	Enhancers	Colon Smooth Muscle	Colon
23	chr22:29300800-29303400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:29300800-29303400	Weak transcription	Fetal Brain Female	brain
25	chr22:29300800-29303400	Weak transcription	HSMM	muscle
26	chr22:29300800-29303400	Weak transcription	Osteobl	bone
27	chr22:29300800-29303600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:29300800-29303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr22:29300800-29304400	Enhancers	Stomach Smooth Muscle	stomach
30	chr22:29300800-29307000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr22:29300800-29307400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr22:29300800-29307600	Weak transcription	Small Intestine	intestine
33	chr22:29301000-29303400	Weak transcription	Fetal Brain Male	brain
34	chr22:29301000-29303400	Weak transcription	HMEC	breast
35	chr22:29301000-29303400	Weak transcription	HSMMtube	muscle
36	chr22:29301000-29303400	Weak transcription	NH-A	brain
37	chr22:29301000-29303600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:29301000-29304200	Weak transcription	NHEK	skin
39	chr22:29301000-29304600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:29301000-29304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr22:29301000-29304800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:29301000-29305400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:29301000-29305400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:29301000-29306800	Weak transcription	NHLF	lung
45	chr22:29301200-29303200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:29301200-29303400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:29301200-29303600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:29301200-29304200	Weak transcription	Fetal Muscle Leg	muscle
49	chr22:29301200-29306400	Weak transcription	Fetal Heart	heart
50	chr22:29301200-29306600	Weak transcription	Adipose Nuclei	Adipose

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