Variant report

Variant	rs565384118
Chromosome Location	chr21:40513383-40513384
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3395554	chr21:40512728-40517052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40509400-40513600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:40509800-40513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40509800-40513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40509800-40515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40510200-40513400	Weak transcription	Fetal Lung	lung
6	chr21:40510600-40515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:40511600-40513400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr21:40512000-40514200	Enhancers	Fetal Thymus	thymus
9	chr21:40512800-40514200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr21:40513000-40514000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:40513000-40514000	Enhancers	Thymus	Thymus
12	chr21:40513200-40513400	Enhancers	NHDF-Ad	bronchial
13	chr21:40513200-40513800	Enhancers	Fetal Muscle Leg	muscle
14	chr21:40513200-40513800	Enhancers	Stomach Mucosa	stomach
15	chr21:40513200-40514000	Enhancers	HSMMtube	muscle
16	chr21:40513200-40514200	Enhancers	Placenta	Placenta

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Input of quick search could be:

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

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