Variant report

Variant	rs132543
Chromosome Location	chr22:29308797-29308798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29308512-29308900	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29194488..29196341-chr22:29307007..29309890,3	MCF-7	breast:
2	chr22:29307320..29309018-chr22:29331038..29332633,2	K562	blood:
3	chr22:29280624..29284164-chr22:29307760..29311501,3	MCF-7	breast:

Variant related genes	Relation type
ZNRF3	TF binding region
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1065497	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1318025	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1318026	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs132528	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs132529	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs132531	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs132533	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132536	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs132548	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2015500	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2064261	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs469990	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs469991	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs469992	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5752826	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762870	0.89[EUR][1000 genomes]
rs5762874	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762877	0.92[ASN][1000 genomes]
rs5762880	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762881	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762882	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997412	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6005936	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6519766	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs715531	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7287918	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8136297	0.82[EUR][1000 genomes]
rs8137262	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8142067	0.90[EUR][1000 genomes]
rs9620841	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625619	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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
rs132543	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 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	chr22:29298400-29310400	Enhancers	Fetal Intestine Large	intestine
3	chr22:29299000-29309200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr22:29303800-29313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:29304400-29309400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29304400-29312400	Weak transcription	Fetal Brain Female	brain
7	chr22:29304400-29312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29304600-29312600	Weak transcription	Fetal Brain Male	brain
9	chr22:29304600-29313000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:29304800-29313800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:29305000-29312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:29305000-29313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:29305400-29309600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:29305600-29313600	Weak transcription	NHEK	skin
15	chr22:29305800-29310000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:29306400-29309200	Enhancers	Liver	Liver
17	chr22:29306400-29309200	Enhancers	Placenta	Placenta
18	chr22:29306400-29309600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29306400-29309800	Enhancers	Rectal Smooth Muscle	rectum
20	chr22:29306400-29310400	Enhancers	Colon Smooth Muscle	Colon
21	chr22:29306400-29310400	Enhancers	Fetal Lung	lung
22	chr22:29306400-29311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr22:29306600-29309200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr22:29307000-29309400	Enhancers	Brain Anterior Caudate	brain
25	chr22:29307000-29309600	Enhancers	Duodenum Mucosa	Duodenum
26	chr22:29307000-29309800	Enhancers	Fetal Intestine Small	intestine
27	chr22:29307000-29310200	Enhancers	Psoas Muscle	Psoas
28	chr22:29307000-29310400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr22:29307400-29309200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:29307400-29309800	Weak transcription	Lung	lung
31	chr22:29307400-29310200	Weak transcription	Esophagus	oesophagus
32	chr22:29307400-29313000	Weak transcription	Brain Substantia Nigra	brain
33	chr22:29307600-29309400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr22:29307600-29310200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:29307600-29312600	Weak transcription	Brain Angular Gyrus	brain
36	chr22:29307800-29309000	Enhancers	HepG2	liver
37	chr22:29307800-29312200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:29308000-29309800	Weak transcription	Aorta	Aorta
39	chr22:29308000-29312200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:29308000-29312400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:29308000-29312600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:29308000-29312600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:29308000-29312600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:29308000-29313000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr22:29308000-29313000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:29308000-29313000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:29308000-29313200	Weak transcription	Gastric	stomach
48	chr22:29308200-29311800	Weak transcription	Ovary	ovary
49	chr22:29308200-29312800	Weak transcription	Right Ventricle	heart
50	chr22:29308200-29313800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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