Variant report

Variant	rs9625516
Chromosome Location	chr22:29024730-29024731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10084639	0.87[AFR][1000 genomes]
rs10222318	0.84[AMR][1000 genomes]
rs10483151	0.91[EUR][1000 genomes]
rs12165708	0.83[EUR][1000 genomes]
rs12165715	0.91[AFR][1000 genomes]
rs12165893	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12166129	0.97[EUR][1000 genomes]
rs12166245	0.89[AFR][1000 genomes]
rs12166363	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166475	0.89[AFR][1000 genomes]
rs12167434	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12167614	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12167667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12168031	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12168765	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12169071	0.90[AFR][1000 genomes]
rs12169120	0.88[AFR][1000 genomes]
rs12169232	0.85[AFR][1000 genomes]
rs12169460	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12169595	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12169880	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12169966	0.95[EUR][1000 genomes]
rs12171099	0.86[AFR][1000 genomes]
rs134547	0.82[AFR][1000 genomes]
rs1474961	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16986398	0.81[AFR][1000 genomes]
rs16986509	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17413461	0.91[EUR][1000 genomes]
rs2013784	0.86[AFR][1000 genomes]
rs2144922	0.86[AFR][1000 genomes]
rs2881496	0.86[AFR][1000 genomes]
rs28818228	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55738739	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57871917	0.82[AMR][1000 genomes]
rs58049055	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs58542867	0.89[AFR][1000 genomes]
rs59262169	0.94[EUR][1000 genomes]
rs60042154	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6005807	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6005809	0.84[AFR][1000 genomes]
rs60065194	0.89[AFR][1000 genomes]
rs60248971	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60693420	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6519753	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6519758	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7286816	0.88[AMR][1000 genomes]
rs7288792	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7289534	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7291268	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7293232	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73430118	0.89[AFR][1000 genomes]
rs73430123	0.94[EUR][1000 genomes]
rs73430136	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73430155	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73430179	0.89[AFR][1000 genomes]
rs73430186	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73430189	0.91[AFR][1000 genomes]
rs73432205	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73439811	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs738200	0.92[EUR][1000 genomes]
rs738627	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8135424	0.85[AFR][1000 genomes]
rs8136767	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8136905	0.85[AFR][1000 genomes]
rs8136995	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8137200	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8137808	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142681	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9306457	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620797	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620799	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620803	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620804	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9620808	0.86[AFR][1000 genomes]
rs9620809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620810	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9620811	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9625467	0.92[EUR][1000 genomes]
rs9625475	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625477	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625478	0.91[EUR][1000 genomes]
rs9625481	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625484	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625487	0.92[EUR][1000 genomes]
rs9625492	0.92[EUR][1000 genomes]
rs9625498	0.89[AFR][1000 genomes]
rs9625501	0.95[EUR][1000 genomes]
rs9625508	0.98[EUR][1000 genomes]
rs9625510	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625512	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9625513	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9625514	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9625515	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625518	0.91[AFR][1000 genomes]
rs9625520	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9625521	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9625522	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9625523	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9625524	0.91[AFR][1000 genomes];0.84[AMR][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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29003000-29025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:29004400-29041600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:29004800-29026000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr22:29004800-29027400	Weak transcription	Aorta	Aorta
5	chr22:29004800-29036000	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:29005800-29054000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:29006400-29037000	Weak transcription	Fetal Stomach	stomach
8	chr22:29010600-29025800	Weak transcription	A549	lung
9	chr22:29013200-29028200	Weak transcription	NHDF-Ad	bronchial
10	chr22:29014000-29044600	Weak transcription	Psoas Muscle	Psoas
11	chr22:29014800-29029200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr22:29016800-29026000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:29016800-29026000	Weak transcription	Ovary	ovary
14	chr22:29016800-29027400	Weak transcription	HepG2	liver
15	chr22:29017000-29052000	Weak transcription	Fetal Lung	lung
16	chr22:29017400-29056200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:29021200-29025200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29023000-29025800	Weak transcription	Hela-S3	cervix
19	chr22:29023200-29025600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:29023400-29025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:29023800-29025800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:29024400-29025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:29024600-29048800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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