Variant report

Variant	rs543164789
Chromosome Location	chr21:44690741-44690742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44689710..44692287-chr21:44845127..44848350,5	MCF-7	breast:
2	chr21:44690164..44692364-chr21:44761370..44764053,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv913833	chr21:44690691-44728354	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44686800-44691800	Enhancers	Fetal Brain Male	brain
2	chr21:44687200-44691800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr21:44687400-44691800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:44687800-44691400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:44687800-44691800	Enhancers	Fetal Brain Female	brain
6	chr21:44688400-44690800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:44688600-44693600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:44688600-44697400	Weak transcription	Fetal Heart	heart
9	chr21:44689200-44691800	Bivalent Enhancer	Fetal Stomach	stomach
10	chr21:44689400-44690800	Weak transcription	Brain Anterior Caudate	brain
11	chr21:44689400-44691600	Enhancers	Ovary	ovary
12	chr21:44689600-44693800	Enhancers	Fetal Lung	lung
13	chr21:44689800-44692800	Weak transcription	Spleen	Spleen
14	chr21:44689800-44693400	Weak transcription	Liver	Liver
15	chr21:44690000-44691200	Weak transcription	Fetal Intestine Small	intestine
16	chr21:44690000-44694600	Weak transcription	A549	lung
17	chr21:44690200-44690800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:44690200-44691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:44690200-44691200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr21:44690200-44691800	Enhancers	Fetal Muscle Leg	muscle
21	chr21:44690400-44691200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:44690400-44691400	Enhancers	Brain Cingulate Gyrus	brain
23	chr21:44690600-44691000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:44690600-44691200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:44690600-44691200	Enhancers	Brain Angular Gyrus	brain
26	chr21:44690600-44691200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr21:44690600-44691200	Enhancers	Brain Substantia Nigra	brain
28	chr21:44690600-44691400	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr21:44690600-44692400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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