Variant report

Variant	rs12170589
Chromosome Location	chr22:30947659-30947660
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	chr22:30943263..30945464-chr22:30947253..30948858,2	K562	blood:
2	chr22:30947026..30952194-chr22:30953690..30959543,7	K562	blood:

Variant related genes	Relation type
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12166447	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4149493	1.00[EUR][1000 genomes]
rs5749124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753178	1.00[EUR][1000 genomes]
rs5753183	1.00[EUR][1000 genomes]
rs5753194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62226963	1.00[EUR][1000 genomes]
rs6518696	1.00[EUR][1000 genomes]
rs6518697	1.00[EUR][1000 genomes]
rs7289983	1.00[EUR][1000 genomes]
rs8138980	1.00[EUR][1000 genomes]
rs9621016	0.90[AMR][1000 genomes];1.00[EUR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30939000-30949800	Weak transcription	Brain Angular Gyrus	brain
2	chr22:30939000-30950800	Weak transcription	Pancreas	Pancrea
3	chr22:30939000-30951400	Weak transcription	Ovary	ovary
4	chr22:30939000-30962000	Weak transcription	Liver	Liver
5	chr22:30939200-30949800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:30939200-30951000	Weak transcription	Brain Substantia Nigra	brain
7	chr22:30939200-30951000	Weak transcription	Gastric	stomach
8	chr22:30939400-30950200	Weak transcription	Brain Anterior Caudate	brain
9	chr22:30942200-30949000	Weak transcription	Fetal Intestine Small	intestine
10	chr22:30943400-30949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:30943400-30951000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:30944800-30968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:30945600-30951400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:30945800-30957400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:30946000-30949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30946200-30950400	Weak transcription	Fetal Stomach	stomach
17	chr22:30946200-30957600	Weak transcription	Spleen	Spleen
18	chr22:30946400-30949400	Weak transcription	Fetal Intestine Large	intestine
19	chr22:30946400-30955600	Weak transcription	HepG2	liver
20	chr22:30947000-30951000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:30947200-30950200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:30947600-30950800	Weak transcription	Brain Inferior Temporal Lobe	brain

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