Variant report

Variant	rs5997750
Chromosome Location	chr22:31131834-31131835
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	chr22:31125004..31127534-chr22:31130840..31132394,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12158477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12160625	0.90[AFR][1000 genomes]
rs5997744	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997745	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997751	0.81[AFR][1000 genomes]
rs5997754	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7293181	1.00[EUR][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:23 , 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	chr22:31126600-31136200	Weak transcription	K562	blood
8	chr22:31128200-31139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:31129000-31136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:31129000-31137200	Weak transcription	Brain Substantia Nigra	brain
11	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
12	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:31129200-31138800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:31129400-31134000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:31129400-31137400	Weak transcription	Brain Anterior Caudate	brain
17	chr22:31129600-31134200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:31129800-31134200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:31129800-31134200	Weak transcription	NHDF-Ad	bronchial
20	chr22:31129800-31137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:31130400-31136200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:31130600-31135800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:31131600-31137200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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