Variant report

Variant	rs34366470
Chromosome Location	chr22:31129526-31129527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31124952..31127381-chr22:31127811..31130663,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13054609	0.84[AMR][1000 genomes]
rs13055971	0.84[AMR][1000 genomes]
rs13056033	0.81[AMR][1000 genomes]
rs13058171	0.81[AMR][1000 genomes]
rs35317322	0.84[AMR][1000 genomes]
rs71331260	0.84[AMR][1000 genomes]
rs71331261	0.84[AMR][1000 genomes]
rs71331262	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31113800-31132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
5	chr22:31118400-31138600	Weak transcription	Fetal Brain Female	brain
6	chr22:31123000-31137200	Weak transcription	Gastric	stomach
7	chr22:31123600-31131200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:31125400-31131200	Weak transcription	Fetal Intestine Small	intestine
9	chr22:31126200-31130600	Enhancers	HUVEC	blood vessel
10	chr22:31126400-31129800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:31126600-31136200	Weak transcription	K562	blood
12	chr22:31128200-31139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:31128600-31129800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:31128600-31129800	Enhancers	HSMM	muscle
15	chr22:31128600-31130000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:31128800-31129600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:31128800-31129800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:31128800-31129800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr22:31128800-31129800	Enhancers	NHDF-Ad	bronchial
20	chr22:31128800-31130000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:31128800-31130400	Enhancers	NH-A	brain
22	chr22:31129000-31129600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr22:31129000-31129600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:31129000-31129800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr22:31129000-31129800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr22:31129000-31129800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr22:31129000-31136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:31129000-31137200	Weak transcription	Brain Substantia Nigra	brain
29	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
30	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:31129200-31129800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:31129200-31129800	Enhancers	Osteobl	bone
34	chr22:31129200-31138800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:31129400-31129600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:31129400-31129600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:31129400-31129800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:31129400-31134000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr22:31129400-31137400	Weak transcription	Brain Anterior Caudate	brain

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