Variant report

Variant	rs7753624
Chromosome Location	chr6:49212734-49212735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1115840	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1117179	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2157515	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2496364	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2516110	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4478408	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4507591	0.80[EUR][1000 genomes]
rs476180	0.80[CEU][hapmap];0.95[CHB][hapmap]
rs493184	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs502946	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs539581	0.95[CHB][hapmap]
rs562077	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs574321	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs579846	0.84[CEU][hapmap];0.95[CHB][hapmap]
rs7750930	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][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	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2755862	chr6:49081541-49298041	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7753624	CENPQ	cis	Esophagus Muscularis	GTEx
rs7753624	CENPQ	cis	lung	GTEx
rs7753624	CENPQ	cis	Nerve Tibial	GTEx
rs7753624	CENPQ	Cis_1M	lymphoblastoid	RTeQTL
rs7753624	CENPQ	cis	multi-tissue	Pritchard
rs7753624	CENPQ	cis	Adipose Subcutaneous	GTEx
rs7753624	CENPQ	cis	Artery Tibial	GTEx
rs7753624	CENPQ	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49211400-49213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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