Variant report

Variant	rs10193113
Chromosome Location	chr2:99606091-99606092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10153626	0.80[AMR][1000 genomes]
rs10165534	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10179043	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10193019	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10196680	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10202452	0.91[EUR][1000 genomes]
rs12464710	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12467679	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12473029	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12477754	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12477978	0.84[EUR][1000 genomes]
rs13396358	0.91[EUR][1000 genomes]
rs13412764	0.89[EUR][1000 genomes]
rs1349778	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1349779	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1530996	0.83[EUR][1000 genomes]
rs1580068	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17708218	0.85[EUR][1000 genomes]
rs1993230	0.84[EUR][1000 genomes]
rs2045057	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2309524	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35001733	0.89[EUR][1000 genomes]
rs4346439	0.82[AMR][1000 genomes]
rs4622780	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4851179	0.86[EUR][1000 genomes]
rs6542852	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6542858	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6704766	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6721535	0.89[EUR][1000 genomes]
rs6732579	0.89[EUR][1000 genomes]
rs6736064	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6740035	0.90[EUR][1000 genomes]
rs6740267	0.91[EUR][1000 genomes]
rs6759354	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7558239	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs896886	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9308816	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs972768	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9808541	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv978937	chr2:99590098-99612582	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv2844	chr2:99594062-99638761	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10193113	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs10193113	TSGA10	cis	Thyroid	GTEx
rs10193113	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99604800-99607000	Weak transcription	Right Atrium	heart

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