Variant report

Variant	rs7260451
Chromosome Location	chr19:21388496-21388497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10416988	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10417249	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422057	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11665921	0.82[ASN][1000 genomes]
rs12611085	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12611135	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12976375	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1445847	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1620157	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1645791	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1645804	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1781860	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1781861	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1781862	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1781879	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1781880	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1937811	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2021432	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2042985	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2081183	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2081186	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2081187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2081188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113136	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2259655	0.86[EUR][1000 genomes]
rs250003	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs29727	0.89[CEU][hapmap]
rs29730	0.90[CEU][hapmap]
rs4121277	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4280382	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4305209	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4411627	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4468754	0.86[EUR][1000 genomes]
rs4482412	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4485500	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4493182	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4560042	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4606860	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4609982	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57740	0.83[CHB][hapmap]
rs584725	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs594638	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs617145	0.81[EUR][1000 genomes]
rs625209	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs634249	0.86[EUR][1000 genomes]
rs634661	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs636752	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs637308	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6511209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511214	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511215	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs660551	0.84[EUR][1000 genomes]
rs661267	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs663416	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs665561	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs669038	0.86[EUR][1000 genomes]
rs673889	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs675130	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs689249	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7245597	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7246432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7247871	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247882	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7248088	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7250372	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251075	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7254835	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7254957	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7257196	0.85[ASN][1000 genomes]
rs7257208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259368	0.85[ASN][1000 genomes]
rs7259520	0.89[CEU][hapmap]
rs8108314	0.83[ASN][1000 genomes]
rs8111169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630897	0.90[CEU][hapmap]
rs9749536	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv911414	chr19:21355473-21454672	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3397817	chr19:21380545-21389996	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv2762988	chr19:21384837-21400142	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7260451	ZNF708	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21380600-21389600	Enhancers	Ovary	ovary
2	chr19:21382800-21388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:21387000-21389800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:21388000-21389400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:21388400-21389400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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