Variant report

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

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Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17553400-17559800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:17553400-17566400	Weak transcription	Fetal Stomach	stomach
3	chr21:17556200-17560400	Enhancers	Brain Cingulate Gyrus	brain
4	chr21:17556400-17559600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr21:17557200-17559800	Enhancers	Brain Substantia Nigra	brain
6	chr21:17557200-17560400	Enhancers	Brain Hippocampus Middle	brain
7	chr21:17557400-17559600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:17557400-17559600	Enhancers	Brain Angular Gyrus	brain
9	chr21:17558400-17566400	Weak transcription	Brain Anterior Caudate	brain
10	chr21:17558600-17559600	Enhancers	Rectal Smooth Muscle	rectum
11	chr21:17558600-17560200	Enhancers	Fetal Heart	heart
12	chr21:17558800-17559600	Enhancers	Right Atrium	heart
13	chr21:17559000-17559600	Enhancers	Fetal Lung	lung
14	chr21:17559000-17571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr21:17559200-17559600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr21:17559200-17559600	Enhancers	Placenta	Placenta
17	chr21:17559200-17559600	Enhancers	Ovary	ovary
18	chr21:17559200-17560200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr21:17559400-17559600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:17559400-17560400	Enhancers	Hela-S3	cervix

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