Variant report

Variant	rs373672693
Chromosome Location	chr21:44692254-44692255
allele	-/GGAGGCAGGGCCAGGAG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv187370	chr21:44692254-44692270	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44688600-44693600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:44688600-44697400	Weak transcription	Fetal Heart	heart
3	chr21:44689600-44693800	Enhancers	Fetal Lung	lung
4	chr21:44689800-44692800	Weak transcription	Spleen	Spleen
5	chr21:44689800-44693400	Weak transcription	Liver	Liver
6	chr21:44690000-44694600	Weak transcription	A549	lung
7	chr21:44690600-44692400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr21:44691000-44693800	Weak transcription	Brain Anterior Caudate	brain
9	chr21:44691200-44692600	Enhancers	Brain Germinal Matrix	brain
10	chr21:44691200-44694800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:44691200-44695000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr21:44691200-44697400	Weak transcription	Brain Angular Gyrus	brain
13	chr21:44691600-44693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:44691800-44694200	Weak transcription	Fetal Brain Male	brain
15	chr21:44691800-44694800	Weak transcription	Fetal Brain Female	brain
16	chr21:44692200-44693200	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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