Variant report

Variant	rs9983703
Chromosome Location	chr21:39804746-39804747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39796963..39799748-chr21:39804462..39806731,2	K562	blood:
2	chr21:39802737..39804812-chr21:39805292..39807283,2	MCF-7	breast:
3	chr21:39804088..39807302-chr21:39813089..39815920,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17230512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17815661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2836380	0.87[AFR][1000 genomes]
rs28811397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs725233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8133155	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9977445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9983067	0.91[EUR][1000 genomes]
rs9984089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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	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	chr21:39781000-39807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:39784800-39807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:39785200-39808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr21:39788000-39807000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr21:39794800-39806200	Weak transcription	Spleen	Spleen
6	chr21:39795400-39813000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:39796600-39815600	Weak transcription	Gastric	stomach
8	chr21:39796800-39806200	Weak transcription	Lung	lung
9	chr21:39796800-39807400	Weak transcription	Aorta	Aorta
10	chr21:39797000-39810800	Weak transcription	Fetal Thymus	thymus
11	chr21:39801200-39811400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:39802800-39807000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:39802800-39809600	Weak transcription	Left Ventricle	heart
14	chr21:39803000-39806000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:39803200-39807000	Strong transcription	HUVEC	blood vessel
16	chr21:39803400-39805000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:39803600-39806000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:39803600-39806000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:39803800-39805800	Weak transcription	Fetal Stomach	stomach
20	chr21:39803800-39806400	Weak transcription	Right Atrium	heart
21	chr21:39804000-39806800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr21:39804600-39805200	Enhancers	Fetal Heart	heart

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