Variant report

Variant	rs72684948
Chromosome Location	chr9:18239965-18239966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11787755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788314	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11789982	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11790387	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790830	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11791252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794137	1.00[ASN][1000 genomes]
rs11794203	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11794779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11795067	1.00[ASN][1000 genomes]
rs11795109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13286848	1.00[AFR][1000 genomes]
rs13299234	1.00[AFR][1000 genomes]
rs13299428	1.00[AFR][1000 genomes]
rs13301677	1.00[AFR][1000 genomes]
rs16936468	1.00[ASN][1000 genomes]
rs16936500	1.00[AFR][1000 genomes]
rs17196795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17198051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17788716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944745	1.00[ASN][1000 genomes]
rs34106751	1.00[AFR][1000 genomes]
rs34263679	1.00[AFR][1000 genomes]
rs34308902	1.00[AFR][1000 genomes]
rs34536464	1.00[AFR][1000 genomes]
rs35046976	1.00[AFR][1000 genomes]
rs35124487	1.00[AFR][1000 genomes]
rs35132372	1.00[AFR][1000 genomes]
rs35289513	1.00[AFR][1000 genomes]
rs36073480	1.00[AFR][1000 genomes]
rs4246140	1.00[ASN][1000 genomes]
rs4512483	1.00[AFR][1000 genomes]
rs55678641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55767089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55768778	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55879948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55924836	1.00[ASN][1000 genomes]
rs55941140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307628	1.00[AFR][1000 genomes]
rs56316407	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59977859	1.00[ASN][1000 genomes]
rs71506866	1.00[AFR][1000 genomes]
rs72684909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684934	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684943	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684944	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684960	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684965	1.00[AFR][1000 genomes]
rs72684967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684969	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72684970	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72684974	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72684975	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72684976	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72684978	1.00[AFR][1000 genomes]
rs72684981	1.00[AFR][1000 genomes]
rs72684982	1.00[AFR][1000 genomes]
rs72684987	1.00[AFR][1000 genomes]
rs72686828	1.00[AFR][1000 genomes]
rs72686838	1.00[AFR][1000 genomes]
rs72699447	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699464	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72699490	1.00[AFR][1000 genomes]
rs72699502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72701514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72701516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72701533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021605	chr9:18002205-18271109	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv892680	chr9:18089614-18267185	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv892681	chr9:18127068-18250459	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv892682	chr9:18166112-18272700	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18225800-18260600	Weak transcription	Aorta	Aorta
2	chr9:18235200-18241000	Enhancers	Hela-S3	cervix
3	chr9:18237200-18240200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:18237600-18240200	Enhancers	HMEC	breast
5	chr9:18237800-18240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:18238600-18240000	Enhancers	Osteobl	bone
7	chr9:18238600-18240200	Enhancers	HSMM	muscle
8	chr9:18238800-18240600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:18239000-18240000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:18239000-18240400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:18239000-18241000	Enhancers	HUVEC	blood vessel
12	chr9:18239600-18241400	Enhancers	Fetal Heart	heart
13	chr9:18239800-18240000	Enhancers	NHLF	lung

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