Variant report

Variant	rs5997410
Chromosome Location	chr22:29222263-29222264
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	chr22:29218995..29220521-chr22:29221339..29224322,2	K562	blood:
2	chr22:29221484..29225930-chr22:29227534..29231329,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12170231	0.84[AMR][1000 genomes]
rs5752808	0.84[AMR][1000 genomes]
rs5752810	0.84[AMR][1000 genomes]
rs5752814	0.84[AMR][1000 genomes]
rs5752815	0.84[AMR][1000 genomes]
rs5762826	0.84[AMR][1000 genomes]
rs5762829	0.80[AMR][1000 genomes]
rs5762835	0.84[AMR][1000 genomes]
rs5762838	0.84[AMR][1000 genomes]
rs5762839	0.84[AMR][1000 genomes]
rs5762848	0.84[AMR][1000 genomes]
rs5997409	0.80[AMR][1000 genomes]
rs6005917	0.84[AMR][1000 genomes]
rs9625591	0.84[AMR][1000 genomes]
rs9625595	0.84[AMR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5997410	XBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29197200-29231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:29198000-29225200	Weak transcription	HSMM	muscle
3	chr22:29198400-29225200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:29198600-29225200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr22:29198600-29225200	Weak transcription	Osteobl	bone
6	chr22:29198600-29231400	Weak transcription	HSMMtube	muscle
7	chr22:29198800-29230800	Weak transcription	NHEK	skin
8	chr22:29200600-29231400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:29205400-29225600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:29211800-29225600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:29212000-29225200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:29214600-29222800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:29214600-29223000	Weak transcription	Fetal Stomach	stomach
14	chr22:29214800-29242200	Weak transcription	Aorta	Aorta
15	chr22:29215000-29225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:29215200-29225200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:29215400-29225600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:29215600-29225600	Weak transcription	Fetal Muscle Leg	muscle
19	chr22:29215600-29231600	Weak transcription	Right Ventricle	heart
20	chr22:29215800-29225200	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:29215800-29225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr22:29215800-29225600	Weak transcription	Adipose Nuclei	Adipose
23	chr22:29216000-29227600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:29216000-29231600	Weak transcription	Placenta	Placenta
25	chr22:29216000-29232800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr22:29216000-29233800	Weak transcription	Left Ventricle	heart
27	chr22:29216000-29238600	Weak transcription	Spleen	Spleen
28	chr22:29216200-29227600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:29218200-29225200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr22:29218200-29231800	Weak transcription	Gastric	stomach
31	chr22:29219200-29223000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr22:29219200-29225600	Weak transcription	Pancreas	Pancrea
33	chr22:29219400-29225200	Weak transcription	Brain Angular Gyrus	brain
34	chr22:29219400-29225600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr22:29219400-29234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:29219600-29225000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr22:29219600-29231800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr22:29219800-29224600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr22:29219800-29225200	Weak transcription	Fetal Intestine Large	intestine
40	chr22:29219800-29225200	Weak transcription	Fetal Intestine Small	intestine
41	chr22:29219800-29225200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:29219800-29225200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr22:29219800-29225200	Weak transcription	Stomach Mucosa	stomach
44	chr22:29219800-29225600	Weak transcription	Fetal Lung	lung
45	chr22:29220000-29222400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr22:29220000-29223000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:29220000-29223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:29220000-29223400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:29220000-29225000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr22:29220000-29225200	Weak transcription	Primary hematopoietic stem cells	blood

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