Variant report

Variant	rs5997748
Chromosome Location	chr22:31128187-31128188
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	chr22:31124952..31127381-chr22:31127811..31130663,2	K562	blood:
2	chr22:31063275..31065151-chr22:31126656..31129232,2	K562	blood:

Variant related genes	Relation type
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12160936	1.00[AMR][1000 genomes]
rs5997741	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997751	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997753	0.96[AFR][1000 genomes];1.00[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:28 , 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	chr22:31115200-31128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:31115400-31128800	Weak transcription	NHDF-Ad	bronchial
5	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
6	chr22:31116400-31128400	Weak transcription	Brain Substantia Nigra	brain
7	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
8	chr22:31118200-31128600	Weak transcription	Brain Angular Gyrus	brain
9	chr22:31118200-31128600	Weak transcription	Brain Anterior Caudate	brain
10	chr22:31118400-31138600	Weak transcription	Fetal Brain Female	brain
11	chr22:31120800-31128600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:31123000-31137200	Weak transcription	Gastric	stomach
13	chr22:31123600-31131200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:31125400-31131200	Weak transcription	Fetal Intestine Small	intestine
15	chr22:31126200-31130600	Enhancers	HUVEC	blood vessel
16	chr22:31126400-31129800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:31126600-31128800	Weak transcription	NH-A	brain
18	chr22:31126600-31129200	Weak transcription	GM12878-XiMat	blood
19	chr22:31126600-31136200	Weak transcription	K562	blood
20	chr22:31126800-31128600	Weak transcription	HSMM	muscle
21	chr22:31127000-31128200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:31127400-31128800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:31127600-31129400	Enhancers	Spleen	Spleen
24	chr22:31127800-31128200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:31127800-31128600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:31127800-31128600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:31127800-31128800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr22:31128000-31129000	Weak transcription	Primary monocytes fromperipheralblood	blood

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