Variant report

Variant	rs73439834
Chromosome Location	chr22:28815518-28815519
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs61140789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7286036	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7289729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293211	1.00[AMR][1000 genomes]
rs73427735	1.00[AMR][1000 genomes]
rs73427742	1.00[AMR][1000 genomes]
rs73427769	1.00[AMR][1000 genomes]
rs73427770	1.00[AMR][1000 genomes]
rs73427775	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73430165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73437891	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73437897	1.00[AMR][1000 genomes]
rs8137771	1.00[AMR][1000 genomes]
rs8138507	1.00[AMR][1000 genomes]
rs8139793	0.83[AFR][1000 genomes]
rs8140238	1.00[AMR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28793000-28819800	Weak transcription	Fetal Intestine Small	intestine
2	chr22:28798800-28821200	Weak transcription	Dnd41	blood
3	chr22:28806800-28815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:28807400-28821200	Weak transcription	Hela-S3	cervix
5	chr22:28808400-28821400	Weak transcription	Gastric	stomach
6	chr22:28808400-28821800	Weak transcription	Psoas Muscle	Psoas
7	chr22:28810600-28816000	Weak transcription	Ovary	ovary
8	chr22:28810600-28821800	Weak transcription	Adipose Nuclei	Adipose
9	chr22:28811000-28821600	Weak transcription	Pancreas	Pancrea
10	chr22:28811800-28815600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:28813400-28815800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:28813600-28816400	Enhancers	Fetal Brain Female	brain
13	chr22:28814000-28817400	Enhancers	Brain Germinal Matrix	brain
14	chr22:28814200-28818000	Enhancers	Fetal Brain Male	brain
15	chr22:28814800-28815600	Enhancers	Liver	Liver
16	chr22:28815000-28816000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:28815000-28816200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr22:28815200-28816200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr22:28815200-28816200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr22:28815200-28816400	Enhancers	Fetal Lung	lung
21	chr22:28815400-28815600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr22:28815400-28816000	Weak transcription	Stomach Mucosa	stomach
23	chr22:28815400-28816200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:28815400-28816400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr22:28815400-28816400	Enhancers	Brain Hippocampus Middle	brain

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