Variant report

Variant	rs9978284
Chromosome Location	chr21:17946074-17946075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17944938..17947324-chr21:17947532..17949135,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13433515	0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444354	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28610987	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73371331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134051	1.00[JPT][hapmap]
rs9977599	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984254	1.00[YRI][hapmap];0.95[AFR][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	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
3	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:17936400-17950400	Weak transcription	Adipose Nuclei	Adipose
6	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
9	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:17941200-17947000	Enhancers	HSMM	muscle
11	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
12	chr21:17941800-17946600	Enhancers	NH-A	brain
13	chr21:17942200-17950600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:17943000-17950400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr21:17943000-17951400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
17	chr21:17943600-17946800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:17944400-17946600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:17944400-17946600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:17944600-17947000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:17944800-17946800	Enhancers	Osteobl	bone
22	chr21:17945000-17946200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:17945200-17946400	Enhancers	A549	lung
24	chr21:17945400-17946200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:17945400-17946800	Enhancers	HUVEC	blood vessel
26	chr21:17945400-17947000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:17945600-17946400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr21:17945600-17946800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:17945800-17946200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr21:17945800-17951200	Weak transcription	HSMMtube	muscle
31	chr21:17946000-17946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:17946000-17946200	Enhancers	Psoas Muscle	Psoas
33	chr21:17946000-17946200	Enhancers	Right Ventricle	heart
34	chr21:17946000-17946200	Enhancers	HMEC	breast
35	chr21:17946000-17951400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr21:17946000-17951800	Weak transcription	NHDF-Ad	bronchial

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