Variant report

Variant	rs59307427
Chromosome Location	chr21:16803048-16803049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10470186	1.00[AMR][1000 genomes]
rs10470187	1.00[AMR][1000 genomes]
rs60069795	1.00[AMR][1000 genomes]
rs8128632	1.00[AMR][1000 genomes]
rs9980104	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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 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	chr21:16794200-16806000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:16797000-16805800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr21:16797600-16804000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:16797800-16804200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:16797800-16813400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:16801600-16803600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:16802000-16803200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:16802000-16803200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:16802000-16803600	Enhancers	HepG2	liver
10	chr21:16802200-16803200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:16802200-16803200	Enhancers	HMEC	breast
12	chr21:16802200-16803400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:16802400-16803400	Enhancers	Adipose Nuclei	Adipose
14	chr21:16802400-16803600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr21:16802400-16804000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:16802600-16803200	Enhancers	HSMM	muscle
17	chr21:16802600-16803200	Enhancers	HSMMtube	muscle
18	chr21:16802600-16803400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:16802600-16803400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:16802600-16803400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr21:16802600-16803600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:16802600-16803600	Enhancers	Fetal Muscle Leg	muscle
23	chr21:16802600-16803800	Enhancers	Left Ventricle	heart
24	chr21:16802600-16803800	Enhancers	Psoas Muscle	Psoas
25	chr21:16802800-16803200	Enhancers	Spleen	Spleen
26	chr21:16802800-16805200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:16803000-16803600	Enhancers	Right Atrium	heart
28	chr21:16803000-16805200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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