Variant report

Variant	rs2823107
Chromosome Location	chr21:16535534-16535535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11088299	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2223128	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823105	0.85[JPT][hapmap]
rs2823118	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2823121	0.80[EUR][1000 genomes]
rs7275529	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7279893	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7282135	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9974193	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9975709	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16528000-16536600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16528200-16536800	Weak transcription	Fetal Heart	heart
3	chr21:16532200-16536600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:16532600-16535600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:16533000-16536800	Weak transcription	Stomach Mucosa	stomach
6	chr21:16533400-16536600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr21:16533600-16537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:16534200-16536600	Weak transcription	Pancreas	Pancrea
9	chr21:16535000-16536000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:16535400-16535600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:16535400-16535600	Enhancers	Placenta	Placenta
12	chr21:16535400-16535600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr21:16535400-16535800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:16535400-16535800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:16535400-16536600	Weak transcription	HepG2	liver

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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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