Variant report

Variant	rs72693703
Chromosome Location	chr9:21294211-21294212
allele	C/T
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:94)

rs_ID	r²[population]
rs10114175	0.84[EUR][1000 genomes]
rs10125532	0.85[AMR][1000 genomes]
rs11999696	0.81[EUR][1000 genomes]
rs12000461	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12002231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12336789	0.84[EUR][1000 genomes]
rs12340718	0.84[EUR][1000 genomes]
rs17334047	0.84[EUR][1000 genomes]
rs17334054	1.00[AMR][1000 genomes]
rs17334061	1.00[AMR][1000 genomes]
rs28383773	1.00[AMR][1000 genomes]
rs28383780	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28383791	1.00[AMR][1000 genomes]
rs28383792	1.00[AMR][1000 genomes]
rs28627173	0.92[EUR][1000 genomes]
rs35000944	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35101870	0.84[EUR][1000 genomes]
rs35353365	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41270127	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41270129	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41270131	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41270133	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41270135	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6475532	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7029860	1.00[AMR][1000 genomes]
rs7037805	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72691656	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72691682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72691685	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72691698	0.95[EUR][1000 genomes]
rs72691699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72691700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72691701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72691917	1.00[AMR][1000 genomes]
rs72691933	1.00[AMR][1000 genomes]
rs72691934	1.00[AMR][1000 genomes]
rs72691936	1.00[AMR][1000 genomes]
rs72691937	1.00[AMR][1000 genomes]
rs72691939	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72691942	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72691948	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72693705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72695780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72695784	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72695785	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72695788	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72695795	0.92[EUR][1000 genomes]
rs72695797	0.92[EUR][1000 genomes]
rs72695798	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72695801	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72697305	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72697307	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72697311	0.87[EUR][1000 genomes]
rs72697312	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72697313	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72697314	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72697315	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72697317	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72697321	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72697322	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72697324	0.84[EUR][1000 genomes]
rs72697326	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72697327	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72699197	0.84[EUR][1000 genomes]
rs72699198	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72699199	0.84[EUR][1000 genomes]
rs72699200	0.84[EUR][1000 genomes]
rs72699201	0.84[EUR][1000 genomes]
rs72699202	0.84[EUR][1000 genomes]
rs72701303	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72701305	0.84[EUR][1000 genomes]
rs72701306	0.84[EUR][1000 genomes]
rs72701307	0.84[EUR][1000 genomes]
rs72701308	0.84[EUR][1000 genomes]
rs72701309	0.84[EUR][1000 genomes]
rs72701311	0.84[EUR][1000 genomes]
rs72701312	0.84[EUR][1000 genomes]
rs72701313	0.84[EUR][1000 genomes]
rs72701314	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72701315	0.84[EUR][1000 genomes]
rs72701316	0.84[EUR][1000 genomes]
rs72701317	0.84[EUR][1000 genomes]
rs72701318	0.84[EUR][1000 genomes]
rs72701319	0.84[EUR][1000 genomes]
rs72701320	0.84[EUR][1000 genomes]
rs72701321	0.81[EUR][1000 genomes]
rs72701345	1.00[AMR][1000 genomes]
rs72701355	1.00[AMR][1000 genomes]
rs72701366	0.85[AMR][1000 genomes]
rs72701368	0.85[AMR][1000 genomes]
rs7862030	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7863385	0.87[EUR][1000 genomes]
rs7865334	0.92[EUR][1000 genomes]
rs9333356	0.84[EUR][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	nsv817218	chr9:20687769-21309177	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
3	nsv892734	chr9:21108817-21323089	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2757325	chr9:21281544-21303689	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
5	esv2759679	chr9:21281544-21303689	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3693022	chr9:21285389-21306318	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
7	nsv438097	chr9:21285389-21306318	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
8	nsv613757	chr9:21289923-21316649	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21290200-21294400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:21290200-21294800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:21293600-21294400	Enhancers	GM12878-XiMat	blood
4	chr9:21293600-21295200	Enhancers	HMEC	breast
5	chr9:21293800-21295400	Enhancers	Hela-S3	cervix
6	chr9:21294000-21295400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:21294200-21295000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:21294200-21295000	Enhancers	NHEK	skin
9	chr9:21294200-21295200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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