Variant report

Variant	rs7519046
Chromosome Location	chr1:172807254-172807255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10218696	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912482	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12066143	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12075908	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2422256	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34884278	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4553232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916196	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6662018	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695422	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517810	0.91[CHB][hapmap];0.87[CHD][hapmap]

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	nsv947552	chr1:172794244-172807477	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7519046	ANKRD45	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172796000-172813800	Weak transcription	Small Intestine	intestine
2	chr1:172801800-172808000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:172803600-172807400	Weak transcription	Dnd41	blood
4	chr1:172806200-172807400	Enhancers	HMEC	breast
5	chr1:172806200-172807800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:172806200-172808400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:172806400-172807800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:172806400-172808400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:172806600-172808800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:172806800-172807600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:172806800-172807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:172806800-172807800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:172806800-172808200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:172806800-172808200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:172806800-172808200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:172806800-172808200	Enhancers	A549	lung
17	chr1:172806800-172809400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:172807000-172807600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:172807000-172807600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:172807000-172807800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:172807000-172808200	Enhancers	Primary T cells from cord blood	blood
22	chr1:172807000-172808200	Enhancers	Hela-S3	cervix
23	chr1:172807000-172808400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:172807000-172808400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:172807000-172808400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:172807000-172808400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:172807000-172808800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:172807200-172807600	Flanking Active TSS	NHEK	skin
29	chr1:172807200-172807800	Enhancers	Osteobl	bone

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