Variant report

Variant	rs73430186
Chromosome Location	chr22:29004821-29004822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29004756..29007074-chr22:29174850..29177158,2	K562	blood:
2	chr22:29002103..29004832-chr22:29188346..29190789,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10222318	0.84[AFR][1000 genomes]
rs10483151	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12165708	0.81[AMR][1000 genomes];0.80[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	1.00[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];0.94[EUR][1000 genomes]
rs12169966	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1474961	0.95[EUR][1000 genomes]
rs16986509	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17413461	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55738739	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57871917	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs58542867	0.84[AMR][1000 genomes]
rs58579082	0.92[AFR][1000 genomes]
rs59262169	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60042154	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6005807	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60065194	0.84[AMR][1000 genomes]
rs6519753	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7291268	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73430105	0.87[AFR][1000 genomes]
rs73430123	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73430136	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73430155	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73430163	0.89[AFR][1000 genomes]
rs73430168	0.85[AFR][1000 genomes]
rs73430179	0.84[AMR][1000 genomes]
rs73430189	0.86[AMR][1000 genomes]
rs73430202	0.92[AFR][1000 genomes]
rs73437900	0.88[AMR][1000 genomes]
rs73439811	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs738200	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs738627	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8137200	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8137808	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9306457	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620797	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620799	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620803	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620804	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[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];0.89[EUR][1000 genomes]
rs9625475	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625477	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625478	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625481	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625484	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625487	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625492	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625498	0.84[AMR][1000 genomes]
rs9625501	0.91[AMR][1000 genomes];0.92[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625515	0.95[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: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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28991800-29007600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:29001600-29006000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:29002000-29006000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:29002800-29005200	Enhancers	Rectal Smooth Muscle	rectum
5	chr22:29003000-29005000	Enhancers	Colon Smooth Muscle	Colon
6	chr22:29003000-29025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29003600-29005200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr22:29004000-29005800	Enhancers	K562	blood
9	chr22:29004000-29006000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:29004200-29005000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr22:29004200-29005000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr22:29004200-29005000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr22:29004400-29005000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr22:29004400-29005000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr22:29004400-29006000	Enhancers	Fetal Lung	lung
16	chr22:29004400-29041600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:29004600-29005400	Enhancers	Right Atrium	heart
18	chr22:29004600-29005800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:29004600-29006000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr22:29004800-29005800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:29004800-29005800	Weak transcription	Fetal Stomach	stomach
22	chr22:29004800-29005800	Enhancers	Stomach Smooth Muscle	stomach
23	chr22:29004800-29006200	Enhancers	Ovary	ovary
24	chr22:29004800-29014600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:29004800-29016600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:29004800-29026000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:29004800-29027400	Weak transcription	Aorta	Aorta
28	chr22:29004800-29036000	Weak transcription	Fetal Muscle Leg	muscle

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