Variant report

Variant	rs988223
Chromosome Location	chr21:40486490-40486491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40486081..40488912-chr21:40489931..40493675,3	K562	blood:
2	chr21:40477468..40480285-chr21:40483981..40486876,2	K562	blood:
3	chr21:40483944..40486730-chr21:40488695..40490921,2	MCF-7	breast:
4	chr21:40480995..40484748-chr21:40484754..40488551,5	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1554930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1554931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063969	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063970	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2063971	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2063972	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836892	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs447046	0.92[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7275673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
2	chr21:40483200-40487000	Weak transcription	Lung	lung
3	chr21:40483200-40488000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:40483800-40486600	Weak transcription	NHLF	lung
5	chr21:40484400-40486600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:40485000-40487000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr21:40485200-40487600	Enhancers	K562	blood
8	chr21:40485400-40487000	Weak transcription	Fetal Stomach	stomach
9	chr21:40485600-40486600	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:40485600-40487200	Weak transcription	Fetal Lung	lung
11	chr21:40485800-40487200	Enhancers	Aorta	Aorta
12	chr21:40486000-40487200	Enhancers	Fetal Brain Male	brain
13	chr21:40486000-40487200	Enhancers	NHDF-Ad	bronchial
14	chr21:40486000-40488000	Enhancers	NH-A	brain
15	chr21:40486200-40486600	Enhancers	Thymus	Thymus
16	chr21:40486200-40487400	Enhancers	Placenta	Placenta
17	chr21:40486200-40487800	Enhancers	Psoas Muscle	Psoas
18	chr21:40486200-40487800	Enhancers	Osteobl	bone
19	chr21:40486400-40486600	Enhancers	Ovary	ovary
20	chr21:40486400-40487200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:40486400-40487200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:40486400-40487200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr21:40486400-40487600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr21:40486400-40487600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:40486400-40487800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:40486400-40487800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr21:40486400-40488000	Enhancers	HepG2	liver

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