Variant report

Variant	rs57049577
Chromosome Location	chr21:17572636-17572637
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs187018	1.00[AMR][1000 genomes]
rs239079	0.83[AMR][1000 genomes]
rs9975033	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr21:17567600-17583600	Weak transcription	Left Ventricle	heart
2	chr21:17569800-17577400	Weak transcription	Fetal Brain Male	brain
3	chr21:17569800-17579600	Weak transcription	NHDF-Ad	bronchial
4	chr21:17569800-17583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:17569800-17583600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:17569800-17583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:17570000-17576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17570000-17583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:17570000-17583600	Weak transcription	Osteobl	bone
10	chr21:17570200-17573000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:17570400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:17571200-17573200	Weak transcription	Hela-S3	cervix
13	chr21:17571200-17577200	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:17571200-17577800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr21:17571400-17583600	Weak transcription	Psoas Muscle	Psoas
16	chr21:17571400-17583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr21:17571600-17583800	Weak transcription	HUVEC	blood vessel
18	chr21:17572200-17573400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr21:17572600-17572800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr21:17572600-17572800	ZNF genes & repeats	Ovary	ovary
21	chr21:17572600-17573200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:17572600-17574400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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