Variant report

Variant	rs1453564
Chromosome Location	chr2:99564428-99564429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10165534	0.84[EUR][1000 genomes]
rs10167390	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10170063	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10179043	0.90[CEU][hapmap]
rs10179910	0.82[EUR][1000 genomes]
rs10181344	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10181422	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10190421	0.90[CEU][hapmap]
rs10193019	0.81[EUR][1000 genomes]
rs10196680	0.84[EUR][1000 genomes]
rs10202452	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1115756	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1115757	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1133977	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs1133978	0.80[ASN][1000 genomes]
rs11683107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs11683188	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs11688004	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.80[TSI][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs11692336	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs11895749	0.82[ASN][1000 genomes]
rs11903311	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12464710	0.84[EUR][1000 genomes]
rs12467679	0.83[EUR][1000 genomes]
rs12468807	0.90[CEU][hapmap]
rs12470471	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12473029	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs12475034	0.83[CEU][hapmap]
rs12477754	0.84[EUR][1000 genomes]
rs12477978	0.90[EUR][1000 genomes]
rs12613624	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs12619780	0.84[ASN][1000 genomes]
rs12987548	0.83[ASN][1000 genomes]
rs13008171	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs13396358	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13407840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13412764	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1349778	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs1349779	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs1453561	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs1453562	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs1453563	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1530996	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1563106	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1563107	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1563108	0.83[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1580068	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs17708218	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs17708262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17759607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs1993230	0.90[CEU][hapmap]
rs2045057	0.90[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap]
rs2084988	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2123686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2309524	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs2516830	0.82[ASN][1000 genomes]
rs2516833	0.81[ASN][1000 genomes]
rs2516835	0.82[ASN][1000 genomes]
rs2632283	0.82[ASN][1000 genomes]
rs28575117	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28648058	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34272114	0.82[ASN][1000 genomes]
rs35001733	0.82[EUR][1000 genomes]
rs4324365	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs4346438	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4374423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4585080	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4622780	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs4850897	0.82[ASN][1000 genomes]
rs4851179	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851184	0.90[CEU][hapmap]
rs4851185	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4851188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs62154638	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62156558	0.85[AMR][1000 genomes]
rs6542846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542852	0.85[EUR][1000 genomes]
rs6542858	0.81[EUR][1000 genomes]
rs6542866	0.82[ASN][1000 genomes]
rs6542868	0.82[ASN][1000 genomes]
rs6704766	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs6707462	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6721535	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6722164	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6724476	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6732579	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6733285	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs6735801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6736064	0.83[EUR][1000 genomes]
rs6737257	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6740035	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6740054	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6740267	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6750876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6753650	0.83[ASN][1000 genomes]
rs6754843	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6756880	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6757019	0.90[CEU][hapmap]
rs6759354	0.84[EUR][1000 genomes]
rs720229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs72957109	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7558239	0.84[EUR][1000 genomes]
rs7570657	0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7571390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586608	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7588059	0.88[ASN][1000 genomes]
rs7591794	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7599427	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7605734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7606635	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7608938	0.82[ASN][1000 genomes]
rs896886	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs9308816	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs9710648	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs972768	0.90[CEU][hapmap]
rs9808541	0.90[CEU][hapmap];0.84[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	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

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs1453564	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs1453564	TSGA10	cis	multi-tissue	Pritchard
rs1453564	LIPT1	cis	multi-tissue	Pritchard
rs1453564	TSGA10	cis	Thyroid	GTEx
rs1453564	TSGA10	cis	Lymphoblastoid	GTEx
rs1453564	TSGA10	cis	lymphoblastoid	seeQTL
rs1453564	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs1453564	TSGA10	cis	cerebellum	SCAN
rs1453564	FAM178B	cis	cerebellum	SCAN
rs1453564	TSGA10	cis	parietal	SCAN
rs1453564	LIPT1	cis	cerebellum	SCAN
rs1453564	LIPT1	cis	lymphoblastoid	seeQTL
rs1453564	LIPT1	cis	parietal	SCAN
rs1453564	ZAP70	cis	parietal	SCAN
rs1453564	TSGA10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99557000-99565200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:99562200-99565400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:99563000-99566200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:99563600-99564600	Enhancers	Fetal Brain Female	brain
5	chr2:99563600-99566000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:99564400-99566400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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