Variant report

Variant	rs12483306
Chromosome Location	chr21:17991559-17991560
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17990209..17992270-chr21:17993099..17994991,2	MCF-7	breast:
2	chr21:17991240..17993634-chr21:17994150..17995813,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10084608	1.00[ASN][1000 genomes]
rs12482037	1.00[AMR][1000 genomes]
rs12482937	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12483223	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2040142	0.95[ASN][1000 genomes]
rs7283241	0.95[ASN][1000 genomes]
rs762300	1.00[ASN][1000 genomes]
rs9305773	1.00[ASN][1000 genomes]
rs9981163	0.95[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
2	chr21:17969000-18005200	Weak transcription	Liver	Liver
3	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
4	chr21:17976000-18001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:17977800-17993600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:17978400-18006200	Weak transcription	Left Ventricle	heart
7	chr21:17979000-17996600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr21:17979400-18006600	Weak transcription	Brain Hippocampus Middle	brain
9	chr21:17980400-17993600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr21:17981000-17996800	Weak transcription	Fetal Brain Male	brain
11	chr21:17981200-17997000	Weak transcription	Fetal Brain Female	brain
12	chr21:17981800-17995400	Weak transcription	HSMM	muscle
13	chr21:17982000-17996800	Weak transcription	Ovary	ovary
14	chr21:17982000-18005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:17982200-17993800	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:17982400-18006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:17985400-17996000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr21:17986200-18003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:17986600-17996800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:17989000-18006200	Weak transcription	Fetal Stomach	stomach
21	chr21:17990000-17996200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr21:17990200-18005200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:17990400-17999400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:17990800-17992800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:17991000-17992800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:17991200-17992200	Strong transcription	Adipose Nuclei	Adipose

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