Variant report

Variant	rs5752743
Chromosome Location	chr22:28820327-28820328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1125250	0.85[JPT][hapmap]
rs1303845	0.85[JPT][hapmap]
rs134176	0.96[CEU][hapmap]
rs134178	0.93[CEU][hapmap]
rs134179	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs134180	0.85[JPT][hapmap]
rs134196	0.86[JPT][hapmap]
rs134489	0.85[JPT][hapmap]
rs134500	0.86[JPT][hapmap]
rs134507	0.95[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs134541	0.85[JPT][hapmap]
rs134543	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs134548	0.85[JPT][hapmap]
rs134551	0.86[JPT][hapmap]
rs2180460	0.81[CEU][hapmap]
rs2346397	0.85[JPT][hapmap]
rs5762553	0.85[CEU][hapmap]
rs5762586	0.81[AMR][1000 genomes]
rs5762660	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs695591	0.85[JPT][hapmap]
rs695625	0.85[JPT][hapmap]

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	chr22:28798800-28821200	Weak transcription	Dnd41	blood
2	chr22:28807400-28821200	Weak transcription	Hela-S3	cervix
3	chr22:28808400-28821400	Weak transcription	Gastric	stomach
4	chr22:28808400-28821800	Weak transcription	Psoas Muscle	Psoas
5	chr22:28810600-28821800	Weak transcription	Adipose Nuclei	Adipose
6	chr22:28811000-28821600	Weak transcription	Pancreas	Pancrea
7	chr22:28816000-28820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:28816200-28820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:28816200-28820600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:28816200-28826400	Weak transcription	Stomach Mucosa	stomach
11	chr22:28816400-28820600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:28816400-28820600	Weak transcription	Fetal Brain Female	brain
13	chr22:28816400-28820600	Weak transcription	Fetal Lung	lung
14	chr22:28816600-28820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:28818000-28825200	Weak transcription	Fetal Brain Male	brain
16	chr22:28818200-28820600	Weak transcription	Osteobl	bone
17	chr22:28819000-28820400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:28819400-28821600	Weak transcription	Ovary	ovary
19	chr22:28819600-28821800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:28819800-28821200	Enhancers	A549	lung
21	chr22:28820200-28820400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr22:28820200-28820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:28820200-28821400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr22:28820200-28821400	Enhancers	Brain Germinal Matrix	brain
25	chr22:28820200-28822200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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