Variant report

Variant	rs181347
Chromosome Location	chr2:54925331-54925332
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13428703	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs168504	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs241661	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2567834	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs354222	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs354225	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58878579	0.80[ASN][1000 genomes]
rs6545440	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs6708082	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6732751	0.88[JPT][hapmap]
rs6740018	0.80[YRI][hapmap]
rs6752720	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6753004	0.84[JPT][hapmap]
rs7582640	0.84[JPT][hapmap]

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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs181347	EML6	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54919800-54925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:54922400-54935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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