Variant report

Variant	rs68166680
Chromosome Location	chr3:160829735-160829736
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160827858..160830677-chr3:160937623..160940393,2	K562	blood:

Variant related genes	Relation type
ENSG00000169251	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10154889	0.85[AMR][1000 genomes]
rs10433352	0.86[AMR][1000 genomes]
rs11712713	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11715733	0.86[AMR][1000 genomes]
rs11717272	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11720263	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11915989	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11922957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11922959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12696112	0.82[AMR][1000 genomes]
rs12696113	0.82[AMR][1000 genomes]
rs13060601	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13060718	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13061088	0.88[ASN][1000 genomes]
rs13062651	0.82[AMR][1000 genomes]
rs13071892	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13085336	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13098896	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13256	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13315565	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1599388	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831796	0.84[AMR][1000 genomes]
rs16831886	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2014810	0.86[AMR][1000 genomes]
rs34221255	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34630898	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35127376	0.83[EUR][1000 genomes]
rs35589595	0.80[EUR][1000 genomes]
rs35914913	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494975	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4521287	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4679929	0.84[AMR][1000 genomes]
rs4856700	0.83[EUR][1000 genomes]
rs57145341	0.84[AMR][1000 genomes]
rs6441362	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6772723	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6794882	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6806015	0.91[AMR][1000 genomes]
rs73021215	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73023235	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7610432	0.86[AMR][1000 genomes]
rs7618924	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7624185	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7628389	0.85[AMR][1000 genomes]
rs7638370	0.80[EUR][1000 genomes]
rs898677	0.86[AMR][1000 genomes]
rs964533	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9812507	0.89[AMR][1000 genomes]
rs9822435	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9832109	0.89[AMR][1000 genomes]
rs9857855	0.86[AMR][1000 genomes]
rs9862086	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9876142	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9880269	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9883566	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv877704	chr3:160806859-160836006	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv877705	chr3:160818188-160836006	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv877707	chr3:160820175-160836006	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs68166680	SPTSSB	cis	Adipose Subcutaneous	GTEx
rs68166680	SPTSSB	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160823200-160832800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:160823800-160830400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:160824200-160830800	Weak transcription	Ovary	ovary
4	chr3:160826800-160834400	Weak transcription	Left Ventricle	heart
5	chr3:160829600-160829800	ZNF genes & repeats	Aorta	Aorta

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