Variant report

Variant	rs4314079
Chromosome Location	chr21:40494979-40494980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2205127	0.86[ASN][1000 genomes]
rs376521	0.80[EUR][1000 genomes]
rs447988	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73217539	0.88[ASN][1000 genomes]

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	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
2	chr21:40486600-40497800	Weak transcription	Thymus	Thymus
3	chr21:40487200-40496400	Weak transcription	Aorta	Aorta
4	chr21:40487200-40497600	Weak transcription	Colonic Mucosa	Colon
5	chr21:40487800-40497600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr21:40493200-40496200	Weak transcription	Fetal Heart	heart
7	chr21:40493200-40496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:40493200-40496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:40493400-40497600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:40493800-40497000	Weak transcription	Lung	lung
11	chr21:40493800-40497600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:40494000-40497600	Weak transcription	Psoas Muscle	Psoas
13	chr21:40494000-40497600	Weak transcription	Spleen	Spleen
14	chr21:40494200-40497600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:40494200-40497600	Weak transcription	Esophagus	oesophagus
16	chr21:40494200-40497600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr21:40494400-40495000	Enhancers	Dnd41	blood
18	chr21:40494400-40496800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:40494400-40497000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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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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