Variant report

Variant	rs725233
Chromosome Location	chr21:39793179-39793180
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17230512	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17815661	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2836380	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs28811397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8133155	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977445	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983067	0.88[EUR][1000 genomes]
rs9983703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9984089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058886	chr21:39341560-39799638	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv834098	chr21:39691898-39845254	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr21:39770600-39796200	Weak transcription	Gastric	stomach
2	chr21:39772400-39794000	Weak transcription	Fetal Stomach	stomach
3	chr21:39772600-39803000	Weak transcription	Adipose Nuclei	Adipose
4	chr21:39777000-39795200	Weak transcription	Lung	lung
5	chr21:39780400-39798800	Weak transcription	Ovary	ovary
6	chr21:39780800-39796200	Weak transcription	Right Ventricle	heart
7	chr21:39781000-39807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:39784800-39798400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:39784800-39798400	Strong transcription	HUVEC	blood vessel
10	chr21:39784800-39807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:39785200-39808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:39786600-39803600	Strong transcription	Primary hematopoietic stem cells	blood
13	chr21:39788000-39807000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr21:39789000-39793600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr21:39789400-39797200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr21:39789800-39800000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr21:39790400-39802400	Weak transcription	Left Ventricle	heart
18	chr21:39792000-39794800	Strong transcription	Spleen	Spleen
19	chr21:39792600-39793600	Enhancers	Fetal Thymus	thymus
20	chr21:39792600-39795600	Strong transcription	Aorta	Aorta
21	chr21:39792800-39793400	Enhancers	Thymus	Thymus
22	chr21:39793000-39793800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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