Variant report

Variant	rs12482937
Chromosome Location	chr21:17976677-17976678
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17961458..17963589-chr21:17976639..17978962,2	MCF-7	breast:
2	chr21:17976261..17979732-chr21:17980310..17982604,3	K562	blood:

Variant related genes	Relation type
ENSG00000207863	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10084608	0.81[ASN][1000 genomes]
rs10084612	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12481827	1.00[CHB][hapmap]
rs12482037	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12483223	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12483306	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12483622	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2823864	1.00[CHB][hapmap]
rs2823891	1.00[CHB][hapmap]
rs7280438	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7283241	1.00[CHB][hapmap]
rs762300	0.81[ASN][1000 genomes]
rs9305773	0.81[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-17978000	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:17961200-17978000	Weak transcription	Left Ventricle	heart
3	chr21:17961200-17978000	Weak transcription	Ovary	ovary
4	chr21:17961200-17979200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
7	chr21:17961400-17977600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:17961400-17983200	Weak transcription	HSMMtube	muscle
9	chr21:17961400-17984000	Weak transcription	Osteobl	bone
10	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix
11	chr21:17963200-17977800	Weak transcription	Adipose Nuclei	Adipose
12	chr21:17963400-17977200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:17963600-17981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:17965000-17977600	Weak transcription	Brain Anterior Caudate	brain
15	chr21:17965200-17977200	Weak transcription	Brain Angular Gyrus	brain
16	chr21:17969000-17977800	Weak transcription	Fetal Kidney	kidney
17	chr21:17969000-18005200	Weak transcription	Liver	Liver
18	chr21:17969200-17977200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:17969200-17980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:17969400-17979800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
22	chr21:17975800-17977000	Enhancers	Fetal Brain Male	brain
23	chr21:17975800-17979200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:17976000-17979200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr21:17976000-18001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:17976400-17976800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:17976600-17977600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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