Variant report

Variant	rs2823137
Chromosome Location	chr21:16575042-16575043
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11088317	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2403907	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823128	0.80[CHB][hapmap];0.80[GIH][hapmap];0.81[TSI][hapmap]
rs2823129	0.80[CHB][hapmap];0.83[AMR][1000 genomes]
rs2823131	0.85[CEU][hapmap];0.80[CHB][hapmap];0.85[GIH][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs2823132	0.84[AMR][1000 genomes]
rs2823133	0.84[AMR][1000 genomes]
rs2823134	0.84[AMR][1000 genomes]
rs2823135	0.85[CEU][hapmap];0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs2823136	0.85[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60893125	0.91[ASN][1000 genomes]
rs7275438	0.85[CEU][hapmap];0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs7275695	0.89[ASW][hapmap];0.82[GIH][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7276622	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7282349	0.80[CHB][hapmap];0.80[GIH][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs926167	0.83[ASW][hapmap];0.81[CEU][hapmap];0.80[CHB][hapmap];0.85[GIH][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 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	chr21:16571800-16576600	Weak transcription	Right Atrium	heart
2	chr21:16572000-16576000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:16572000-16576400	Weak transcription	Left Ventricle	heart
4	chr21:16572200-16576000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:16572200-16576400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:16572200-16576400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr21:16572400-16575400	Weak transcription	Fetal Kidney	kidney
8	chr21:16572400-16576200	Weak transcription	K562	blood
9	chr21:16572400-16576400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:16572400-16576400	Weak transcription	Adipose Nuclei	Adipose
11	chr21:16573000-16575400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:16573200-16575400	Weak transcription	Fetal Heart	heart
13	chr21:16573200-16575400	Weak transcription	A549	lung
14	chr21:16573200-16576400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:16573200-16576400	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:16573400-16575400	Weak transcription	HepG2	liver
17	chr21:16574200-16575200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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