Variant report

Variant	rs73430136
Chromosome Location	chr22:28940864-28940865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28934195..28936559-chr22:28940613..28943481,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10483151	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12165708	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12165715	0.86[AMR][1000 genomes]
rs12166129	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12166245	0.84[AMR][1000 genomes]
rs12166363	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12167667	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12169120	0.86[AMR][1000 genomes]
rs12169595	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12169966	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1474961	0.95[EUR][1000 genomes]
rs16986509	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17413461	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55738739	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57871917	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs58542867	0.84[AMR][1000 genomes]
rs58579082	0.86[AFR][1000 genomes]
rs59262169	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60042154	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6005807	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60065194	0.84[AMR][1000 genomes]
rs6519753	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7291268	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73430105	0.87[AFR][1000 genomes]
rs73430123	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73430155	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73430163	0.89[AFR][1000 genomes]
rs73430168	0.85[AFR][1000 genomes]
rs73430179	0.84[AMR][1000 genomes]
rs73430186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73430189	0.86[AMR][1000 genomes]
rs73430202	0.86[AFR][1000 genomes]
rs73437900	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73439811	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs738200	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs738627	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8137200	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8137808	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9306457	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620797	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620799	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620803	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620804	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620808	0.84[AMR][1000 genomes]
rs9620809	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625467	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625475	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625477	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625478	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625481	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625484	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625487	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625492	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625498	0.84[AMR][1000 genomes]
rs9625501	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625508	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625509	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9625510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625515	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625516	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28917600-28943200	Weak transcription	Left Ventricle	heart
2	chr22:28933600-28953800	Weak transcription	HSMMtube	muscle
3	chr22:28935400-28943000	Weak transcription	Fetal Brain Male	brain
4	chr22:28937000-28945600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:28937400-28950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:28937600-28946200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:28937600-28946400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:28939200-28942800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:28939400-28941200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:28939400-28943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:28939600-28944200	Weak transcription	Fetal Lung	lung
12	chr22:28939600-28946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:28940200-28943200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:28940400-28941000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:28940400-28941400	Enhancers	K562	blood
16	chr22:28940600-28941000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:28940600-28941000	Enhancers	Placenta	Placenta
18	chr22:28940800-28941000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:28940800-28943000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:28940800-28943000	Weak transcription	NHLF	lung

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