Variant report

Variant	rs695344
Chromosome Location	chr22:28813535-28813536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2013784	0.89[ASN][1000 genomes]
rs2144922	0.89[ASN][1000 genomes]
rs2180459	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2346866	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2881496	0.89[ASN][1000 genomes]
rs5752756	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5762667	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5762706	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6005807	0.86[ASN][1000 genomes]
rs62237575	0.83[ASN][1000 genomes]
rs695289	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695294	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs695305	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695346	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695365	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs695442	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695529	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs695555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695571	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695575	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs695580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695609	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695626	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695627	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs695656	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs713649	0.83[ASN][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28793000-28814000	Weak transcription	Left Ventricle	heart
2	chr22:28793000-28819800	Weak transcription	Fetal Intestine Small	intestine
3	chr22:28798800-28821200	Weak transcription	Dnd41	blood
4	chr22:28806800-28815400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:28806800-28815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:28807400-28821200	Weak transcription	Hela-S3	cervix
7	chr22:28807600-28814000	Weak transcription	Brain Germinal Matrix	brain
8	chr22:28808400-28821400	Weak transcription	Gastric	stomach
9	chr22:28808400-28821800	Weak transcription	Psoas Muscle	Psoas
10	chr22:28810600-28813600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:28810600-28813600	Weak transcription	Fetal Brain Female	brain
12	chr22:28810600-28814800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:28810600-28815000	Weak transcription	HepG2	liver
14	chr22:28810600-28815200	Weak transcription	Fetal Lung	lung
15	chr22:28810600-28816000	Weak transcription	Ovary	ovary
16	chr22:28810600-28821800	Weak transcription	Adipose Nuclei	Adipose
17	chr22:28811000-28821600	Weak transcription	Pancreas	Pancrea
18	chr22:28811800-28814200	Weak transcription	Fetal Brain Male	brain
19	chr22:28811800-28815600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:28813000-28813600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:28813400-28813600	Enhancers	Small Intestine	intestine
22	chr22:28813400-28815800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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