Variant report

Variant	rs11088299
Chromosome Location	chr21:16536756-16536757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1014526	0.81[EUR][1000 genomes]
rs2223128	0.96[EUR][1000 genomes]
rs2823107	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823118	0.93[EUR][1000 genomes]
rs2823121	0.82[EUR][1000 genomes]
rs2823124	0.80[EUR][1000 genomes]
rs7275529	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7279893	0.96[EUR][1000 genomes]
rs7282135	0.96[EUR][1000 genomes]
rs965098	0.82[EUR][1000 genomes]
rs9974193	0.96[EUR][1000 genomes]
rs9975709	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16528200-16536800	Weak transcription	Fetal Heart	heart
2	chr21:16533000-16536800	Weak transcription	Stomach Mucosa	stomach
3	chr21:16533600-16537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr21:16535800-16537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:16536000-16537200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:16536600-16536800	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr21:16536600-16537000	Enhancers	Duodenum Mucosa	Duodenum
8	chr21:16536600-16537000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr21:16536600-16537400	Enhancers	Placenta	Placenta
10	chr21:16536600-16537400	Enhancers	Pancreas	Pancrea
11	chr21:16536600-16537400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr21:16536600-16537400	Enhancers	A549	lung
13	chr21:16536600-16537400	Enhancers	NHEK	skin
14	chr21:16536600-16537800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:16536600-16538000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr21:16536600-16538400	Enhancers	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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