Variant report

Variant	rs56083400
Chromosome Location	chr21:17979484-17979485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17976261..17979732-chr21:17980310..17982604,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP25-2	chr21:17979314-17979542	ENSG00000215386
2	lnc-USP25-2	chr21:17979314-17982094	ENSG00000215386
3	lnc-USP25-2	chr21:17979314-17979569	ENSG00000215386
4	lnc-USP25-2	chr21:17979314-17979674	XLOC_013869
5	lnc-USP25-2	chr21:17979314-17979588	ENSG00000215386.6
6	lnc-USP25-2	chr21:17979314-17979663	NONHSAT081235
7	lnc-USP25-2	chr21:17979314-17979542	ENSG00000215386.6
8	lnc-USP25-2	chr21:17979314-17982094	NONHSAT081228

No data

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55725525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59398000	1.00[AMR][1000 genomes]
rs61006502	1.00[AMR][1000 genomes]
rs61356708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62222249	1.00[AFR][1000 genomes]
rs73891610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891621	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8130645	1.00[AMR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
3	chr21:17961400-17983200	Weak transcription	HSMMtube	muscle
4	chr21:17961400-17984000	Weak transcription	Osteobl	bone
5	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix
6	chr21:17963600-17981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:17969000-18005200	Weak transcription	Liver	Liver
8	chr21:17969200-17980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:17969400-17979800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
11	chr21:17976000-18001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:17977800-17989800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:17977800-17993600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr21:17978200-17985800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr21:17978200-17988600	Weak transcription	Fetal Stomach	stomach
16	chr21:17978400-17979600	Weak transcription	Adipose Nuclei	Adipose
17	chr21:17978400-17979600	Enhancers	Fetal Brain Female	brain
18	chr21:17978400-17979600	Weak transcription	Fetal Muscle Leg	muscle
19	chr21:17978400-17979800	Enhancers	Fetal Brain Male	brain
20	chr21:17978400-18006200	Weak transcription	Left Ventricle	heart
21	chr21:17978800-17980800	Weak transcription	Ovary	ovary
22	chr21:17978800-17981600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:17979000-17981400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:17979000-17996600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:17979200-17979800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:17979200-17979800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr21:17979200-17980400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr21:17979400-18006600	Weak transcription	Brain Hippocampus Middle	brain

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