Variant report

Variant	rs28469763
Chromosome Location	chr21:17268209-17268210
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17265205..17268363-chr21:17275143..17278889,4	K562	blood:
2	chr21:17266617..17268708-chr21:17272373..17274674,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1022457	0.86[ASN][1000 genomes]
rs2026853	0.81[AFR][1000 genomes]
rs2252133	0.86[EUR][1000 genomes]
rs2404001	0.86[ASN][1000 genomes]
rs2823502	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823503	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823504	0.83[ASN][1000 genomes]
rs2823505	0.84[AFR][1000 genomes]
rs2823506	0.89[ASN][1000 genomes]
rs2823507	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823509	0.86[EUR][1000 genomes]
rs2823510	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2823511	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2823516	0.84[EUR][1000 genomes]
rs2823517	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28679848	0.86[EUR][1000 genomes]
rs392203	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7278727	0.84[AFR][1000 genomes]
rs7281511	0.81[AFR][1000 genomes]
rs7283467	0.88[EUR][1000 genomes]
rs8127570	0.83[ASN][1000 genomes]
rs8127734	0.85[ASN][1000 genomes]
rs8128766	0.83[AFR][1000 genomes]
rs9977069	0.83[AFR][1000 genomes]
rs9980260	0.90[ASN][1000 genomes]
rs9983385	0.85[AFR][1000 genomes]
rs9983858	0.85[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr21:17245400-17270400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:17253200-17269000	Weak transcription	Psoas Muscle	Psoas
3	chr21:17253400-17269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:17255400-17269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:17256600-17270400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:17256800-17268400	Weak transcription	A549	lung
7	chr21:17261400-17271800	Weak transcription	HSMM	muscle
8	chr21:17266600-17269600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:17267200-17268400	Enhancers	Colon Smooth Muscle	Colon
10	chr21:17267200-17268400	Enhancers	Fetal Lung	lung
11	chr21:17267600-17269000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:17267800-17268400	Enhancers	Adipose Nuclei	Adipose
13	chr21:17268000-17268400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:17268000-17268400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:17268000-17268400	Enhancers	Brain Substantia Nigra	brain
16	chr21:17268000-17268400	Enhancers	Ovary	ovary
17	chr21:17268000-17268800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:17268000-17269800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:17268000-17271200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:17268200-17268400	Enhancers	Stomach Smooth Muscle	stomach
21	chr21:17268200-17269000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:17268200-17269200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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