Variant report

Variant	rs2823518
Chromosome Location	chr21:17266016-17266017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17265205..17268363-chr21:17275143..17278889,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP25-1	chr21:17256944-17267308	NONHSAT081216

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1022457	0.91[EUR][1000 genomes]
rs10482876	0.91[CEU][hapmap]
rs11910884	0.81[CEU][hapmap]
rs1543299	0.82[CEU][hapmap]
rs17241416	0.91[CEU][hapmap]
rs17241423	0.89[CEU][hapmap]
rs17241430	0.91[CEU][hapmap]
rs17241444	0.91[CEU][hapmap]
rs17307176	0.91[CEU][hapmap]
rs2026853	0.91[CEU][hapmap]
rs2242676	0.91[CEU][hapmap]
rs2245574	0.82[CEU][hapmap]
rs2248859	0.83[ASN][1000 genomes]
rs2252133	0.83[ASN][1000 genomes]
rs2404001	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs2823455	0.82[CEU][hapmap]
rs2823471	0.91[CEU][hapmap]
rs2823472	0.82[CEU][hapmap]
rs2823478	0.91[CEU][hapmap]
rs2823489	0.82[CEU][hapmap]
rs2823491	0.91[CEU][hapmap]
rs2823493	0.91[CEU][hapmap]
rs2823499	0.91[CEU][hapmap]
rs2823500	0.91[CEU][hapmap]
rs2823504	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2823509	0.85[ASN][1000 genomes]
rs2823510	0.91[EUR][1000 genomes]
rs2823511	0.91[EUR][1000 genomes]
rs2823513	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823516	0.82[ASN][1000 genomes]
rs2823517	0.89[EUR][1000 genomes]
rs28679848	0.96[ASN][1000 genomes]
rs3787577	0.91[CEU][hapmap]
rs409901	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs412155	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs412843	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs444158	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs460497	0.81[JPT][hapmap]
rs463566	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs6517609	0.82[CEU][hapmap]
rs6517613	0.82[CEU][hapmap]
rs6517648	0.91[CEU][hapmap]
rs6517652	0.91[CEU][hapmap]
rs7281511	0.91[CEU][hapmap]
rs7283467	0.81[ASN][1000 genomes]
rs7283707	0.91[CEU][hapmap]
rs8127158	0.82[CEU][hapmap]
rs8127570	0.87[EUR][1000 genomes]
rs8134327	0.82[CEU][hapmap]

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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2823518	TACC2	cis	Temporal Cortex	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17245400-17270400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:17253000-17268200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:17253200-17268000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:17253200-17268000	Weak transcription	Left Ventricle	heart
5	chr21:17253200-17269000	Weak transcription	Psoas Muscle	Psoas
6	chr21:17253400-17267800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr21:17253400-17269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:17253600-17267200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr21:17255400-17267200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:17255400-17267400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr21:17255400-17269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:17255600-17267200	Weak transcription	Fetal Lung	lung
13	chr21:17255800-17268000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:17255800-17268000	Weak transcription	Ovary	ovary
15	chr21:17256400-17267200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:17256600-17267200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:17256600-17267400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:17256600-17270400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:17256800-17268400	Weak transcription	A549	lung
20	chr21:17257000-17267800	Weak transcription	Adipose Nuclei	Adipose
21	chr21:17257400-17267600	Weak transcription	HSMMtube	muscle
22	chr21:17261400-17271800	Weak transcription	HSMM	muscle

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