Variant report

Variant	rs1773752
Chromosome Location	chr1:223333907-223333908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1640801	0.96[AFR][1000 genomes]
rs1640803	0.82[ASW][hapmap]
rs1640806	0.82[ASW][hapmap]
rs1640816	1.00[ASW][hapmap];0.81[LWK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs1773739	0.86[AFR][1000 genomes]
rs1773751	1.00[AFR][1000 genomes]
rs1773764	1.00[AFR][1000 genomes]
rs2430412	0.88[AFR][1000 genomes]
rs851167	0.88[AFR][1000 genomes]
rs851169	0.88[AFR][1000 genomes]
rs851172	0.88[AFR][1000 genomes]
rs851175	0.96[AFR][1000 genomes]
rs864833	0.88[AFR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1773752	TPM2	trans	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223327200-223334600	Weak transcription	Fetal Thymus	thymus
2	chr1:223329200-223338600	Weak transcription	Placenta	Placenta
3	chr1:223331200-223334600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:223333600-223335400	Enhancers	Primary T cells from cord blood	blood
5	chr1:223333800-223334600	Enhancers	Fetal Brain Male	brain

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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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