Variant report

Variant	rs6048928
Chromosome Location	chr20:23585988-23585989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1010117	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1011226	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1064039	0.84[EUR][1000 genomes]
rs1158167	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12624424	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12625182	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12625716	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12710327	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13037490	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13038305	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13038337	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13038990	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13039536	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs13040663	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13041070	0.86[EUR][1000 genomes]
rs13043266	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13043610	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555355	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17751897	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2016161	0.85[EUR][1000 genomes]
rs2067488	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2208289	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2254635	0.84[CEU][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2405367	0.85[CEU][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap]
rs2405392	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2405393	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424582	0.85[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs28703706	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3004139	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3004145	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3088162	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34374560	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34746357	0.85[EUR][1000 genomes]
rs34792920	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34897231	0.85[EUR][1000 genomes]
rs34911568	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35488434	0.85[EUR][1000 genomes]
rs35573837	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35610040	0.90[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs35782710	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35966482	0.85[EUR][1000 genomes]
rs3761280	0.85[EUR][1000 genomes]
rs3761281	0.85[EUR][1000 genomes]
rs3787498	0.90[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs3787499	0.90[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs3810575	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3827141	0.90[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs3827142	0.90[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs3827143	0.90[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs4346460	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4815222	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4815223	0.94[CEU][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4815224	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5030707	0.84[EUR][1000 genomes]
rs55897275	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56077567	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56371840	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56388902	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57549987	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59059917	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036461	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6036463	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6036465	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6036469	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6036470	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036471	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036474	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036476	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036478	0.85[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048920	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6048922	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048924	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048925	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048926	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048929	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048930	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6048933	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048936	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048937	0.81[ASN][1000 genomes]
rs6048939	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048941	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048945	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048946	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048949	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6048950	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048952	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048956	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61035931	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6106685	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6114201	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6114206	0.84[EUR][1000 genomes]
rs6114208	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6114209	0.84[EUR][1000 genomes]
rs6515375	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67567111	0.85[EUR][1000 genomes]
rs67997662	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71334202	0.81[EUR][1000 genomes]
rs7265178	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7270413	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73318135	0.83[EUR][1000 genomes]
rs734801	0.82[EUR][1000 genomes]
rs8114619	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8115417	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8115423	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8116859	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8121147	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8121283	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8121405	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs911119	0.84[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6048928	CST3	Cis_1M	lymphoblastoid	RTeQTL
rs6048928	CST3	cis	parietal	SCAN
rs6048928	CST3	cis	multi-tissue	Pritchard
rs6048928	CST3	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23583400-23594000	Weak transcription	Right Atrium	heart
2	chr20:23583600-23587600	Weak transcription	Spleen	Spleen
3	chr20:23584000-23587000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr20:23584000-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr20:23584200-23586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23584200-23587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:23584400-23586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:23585000-23588800	Enhancers	Fetal Thymus	thymus
10	chr20:23585600-23586000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:23585600-23586000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast

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