Variant report

Variant	rs8114619
Chromosome Location	chr20:23601813-23601814
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1010117	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1011226	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1064039	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1158167	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12624424	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625182	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625716	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12710327	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13037490	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13038305	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13038337	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13038990	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13039536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13040663	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13041070	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13043266	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13043610	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1555355	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17751897	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016161	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2067488	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2208289	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2254635	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2405367	0.90[CEU][hapmap];0.86[JPT][hapmap]
rs2405392	0.91[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2405393	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2424582	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28703706	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3004139	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3004145	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3088162	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34374560	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34746357	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34792920	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34897231	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34911568	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35488434	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35573837	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35610040	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35782710	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35966482	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3761280	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3761281	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3787498	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3787499	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3810575	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3827141	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3827142	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3827143	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4346460	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4815222	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815223	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5030707	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55897275	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56077567	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56371840	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56388902	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57549987	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59059917	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036461	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6036463	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6036465	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6036469	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6036470	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036471	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036474	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036476	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6036478	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6048920	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048922	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048923	0.95[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048924	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048925	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048926	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048928	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048929	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048930	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6048933	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048936	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048937	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6048939	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048941	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048949	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048950	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048952	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6048956	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61035931	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6106685	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6114201	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6114206	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6114208	0.91[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6114209	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6515375	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67567111	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67997662	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71334202	0.83[EUR][1000 genomes]
rs7265178	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7270413	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73318135	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs734801	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8115417	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8115423	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8116859	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8121147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8121283	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8121405	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs911119	0.90[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8114619	CST3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23595200-23603400	Weak transcription	Brain Anterior Caudate	brain
2	chr20:23598200-23603000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr20:23600600-23617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:23600800-23602200	Enhancers	Stomach Mucosa	stomach
5	chr20:23601200-23602000	Flanking Active TSS	HepG2	liver
6	chr20:23601400-23602000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23601400-23602000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr20:23601600-23602000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr20:23601600-23602000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr20:23601600-23602000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:23601600-23602000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:23601600-23602000	Enhancers	Fetal Intestine Small	intestine
13	chr20:23601600-23602000	ZNF genes & repeats	Lung	lung
14	chr20:23601600-23603400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:23601800-23602000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr20:23601800-23602000	Enhancers	Brain Substantia Nigra	brain
17	chr20:23601800-23602200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr20:23601800-23602400	Enhancers	Gastric	stomach
19	chr20:23601800-23603400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr20:23601800-23603400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:23601800-23603400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:23601800-23606000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:23601800-23606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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