Variant report

Variant	rs12483223
Chromosome Location	chr21:17979088-17979089
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	chr21:17976261..17979732-chr21:17980310..17982604,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10084608	0.91[ASN][1000 genomes]
rs10084612	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs12481827	1.00[CHB][hapmap]
rs12482037	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12482937	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12483306	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12483622	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2040142	0.86[ASN][1000 genomes]
rs2823864	1.00[CHB][hapmap]
rs2823891	1.00[CHB][hapmap]
rs7280438	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7283241	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs762300	0.91[ASN][1000 genomes]
rs9305773	0.91[ASN][1000 genomes]
rs9981163	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-17979200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
4	chr21:17961400-17983200	Weak transcription	HSMMtube	muscle
5	chr21:17961400-17984000	Weak transcription	Osteobl	bone
6	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix
7	chr21:17963600-17981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:17969000-18005200	Weak transcription	Liver	Liver
9	chr21:17969200-17980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:17969400-17979800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
12	chr21:17975800-17979200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:17976000-17979200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr21:17976000-18001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:17977800-17989800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:17977800-17993600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:17978200-17985800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr21:17978200-17988600	Weak transcription	Fetal Stomach	stomach
19	chr21:17978400-17979200	Enhancers	Brain Germinal Matrix	brain
20	chr21:17978400-17979400	Enhancers	Brain Hippocampus Middle	brain
21	chr21:17978400-17979400	Enhancers	Brain Substantia Nigra	brain
22	chr21:17978400-17979600	Weak transcription	Adipose Nuclei	Adipose
23	chr21:17978400-17979600	Enhancers	Fetal Brain Female	brain
24	chr21:17978400-17979600	Weak transcription	Fetal Muscle Leg	muscle
25	chr21:17978400-17979800	Enhancers	Fetal Brain Male	brain
26	chr21:17978400-18006200	Weak transcription	Left Ventricle	heart
27	chr21:17978800-17980800	Weak transcription	Ovary	ovary
28	chr21:17978800-17981600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:17979000-17981400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:17979000-17996600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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