Variant report

Variant	rs2823105
Chromosome Location	chr21:16532405-16532406
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1009576	0.88[EUR][1000 genomes]
rs11908720	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2254223	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2823104	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2823107	0.85[JPT][hapmap]
rs2823109	0.91[EUR][1000 genomes]
rs2823114	0.87[EUR][1000 genomes]
rs58228216	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59210723	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59949852	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7279147	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9974170	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9976384	0.88[EUR][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:17 , 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	chr21:16530000-16535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:16531000-16533400	Weak transcription	Pancreas	Pancrea
5	chr21:16531200-16533400	Enhancers	Primary B cells from peripheral blood	blood
6	chr21:16531400-16533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:16531400-16533600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr21:16531400-16533600	Enhancers	Primary B cells from cord blood	blood
9	chr21:16531600-16532600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:16531600-16533000	Enhancers	Fetal Intestine Small	intestine
11	chr21:16531600-16533000	Enhancers	Stomach Mucosa	stomach
12	chr21:16531600-16533000	Enhancers	GM12878-XiMat	blood
13	chr21:16531800-16532800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:16532000-16533000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:16532000-16533400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr21:16532200-16535000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:16532200-16536600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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