Variant report

Variant	rs1807603
Chromosome Location	chr22:28816720-28816721
allele	A/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]
rs134529	0.89[ASN][1000 genomes]
rs134545	0.89[AFR][1000 genomes]
rs1986052	0.82[EUR][1000 genomes]
rs2145161	0.82[ASN][1000 genomes]
rs2180460	0.83[ASN][1000 genomes]
rs5752745	0.96[ASN][1000 genomes]
rs5752763	0.84[ASN][1000 genomes]
rs5752764	0.80[ASN][1000 genomes]
rs5762586	0.87[ASN][1000 genomes]
rs5762629	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5762665	0.95[ASN][1000 genomes]
rs5762680	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762683	0.84[ASN][1000 genomes]
rs5762730	0.81[ASN][1000 genomes]
rs5762737	0.82[ASN][1000 genomes]
rs6005795	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs695591	0.83[AMR][1000 genomes]
rs695797	0.83[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:22 , 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	chr22:28807400-28821200	Weak transcription	Hela-S3	cervix
4	chr22:28808400-28821400	Weak transcription	Gastric	stomach
5	chr22:28808400-28821800	Weak transcription	Psoas Muscle	Psoas
6	chr22:28810600-28821800	Weak transcription	Adipose Nuclei	Adipose
7	chr22:28811000-28821600	Weak transcription	Pancreas	Pancrea
8	chr22:28814000-28817400	Enhancers	Brain Germinal Matrix	brain
9	chr22:28814200-28818000	Enhancers	Fetal Brain Male	brain
10	chr22:28816000-28820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:28816200-28817600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:28816200-28820000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:28816200-28820200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:28816200-28820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:28816200-28820600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:28816200-28826400	Weak transcription	Stomach Mucosa	stomach
17	chr22:28816400-28819600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:28816400-28820600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:28816400-28820600	Weak transcription	Fetal Brain Female	brain
20	chr22:28816400-28820600	Weak transcription	Fetal Lung	lung
21	chr22:28816600-28816800	Enhancers	Ovary	ovary
22	chr22:28816600-28820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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