Variant report

Variant	rs7364229
Chromosome Location	chr22:29305061-29305062
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29300472..29303069-chr22:29304300..29306897,2	K562	blood:
2	chr22:29300330..29301972-chr22:29304300..29306887,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16986838	0.81[ASN][1000 genomes]
rs739196	0.81[ASN][1000 genomes]
rs916332	0.81[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
rs7364229	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 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	chr22:29298600-29305400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:29298800-29305200	Enhancers	Brain Cingulate Gyrus	brain
6	chr22:29299000-29309200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:29299600-29307000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:29300000-29307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:29300800-29307000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:29300800-29307400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr22:29300800-29307600	Weak transcription	Small Intestine	intestine
12	chr22:29301000-29305400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr22:29301000-29305400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:29301000-29306800	Weak transcription	NHLF	lung
15	chr22:29301200-29306400	Weak transcription	Fetal Heart	heart
16	chr22:29301200-29306600	Weak transcription	Adipose Nuclei	Adipose
17	chr22:29301400-29306600	Weak transcription	Fetal Stomach	stomach
18	chr22:29301400-29306800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:29301400-29306800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:29301800-29306600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:29301800-29307200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:29302000-29307400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:29302400-29305800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr22:29302400-29306400	Weak transcription	Placenta	Placenta
25	chr22:29302400-29306400	Weak transcription	Hela-S3	cervix
26	chr22:29302400-29307000	Weak transcription	Psoas Muscle	Psoas
27	chr22:29302600-29306400	Weak transcription	Fetal Lung	lung
28	chr22:29302600-29306600	Weak transcription	Right Atrium	heart
29	chr22:29302800-29306400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr22:29302800-29306800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:29303200-29305600	Enhancers	Ovary	ovary
32	chr22:29303200-29306600	Enhancers	Gastric	stomach
33	chr22:29303400-29305400	Enhancers	Stomach Mucosa	stomach
34	chr22:29303600-29305200	Enhancers	Duodenum Mucosa	Duodenum
35	chr22:29303600-29306600	Enhancers	Fetal Intestine Small	intestine
36	chr22:29303800-29305200	Weak transcription	HMEC	breast
37	chr22:29303800-29305200	Weak transcription	NH-A	brain
38	chr22:29303800-29306600	Weak transcription	Aorta	Aorta
39	chr22:29303800-29306600	Weak transcription	Pancreas	Pancrea
40	chr22:29303800-29307000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:29303800-29307000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:29303800-29307600	Weak transcription	HSMMtube	muscle
43	chr22:29303800-29313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:29304000-29305800	Enhancers	A549	lung
45	chr22:29304000-29307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:29304200-29305600	Enhancers	NHEK	skin
47	chr22:29304400-29305200	Enhancers	Liver	Liver
48	chr22:29304400-29305800	Weak transcription	Right Ventricle	heart
49	chr22:29304400-29306400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:29304400-29306400	Weak transcription	Brain Hippocampus Middle	brain

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