Variant report

Variant	rs6005765
Chromosome Location	chr22:28757265-28757266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12157518	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986103	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16986290	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16986377	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16986462	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16986548	0.82[ASN][1000 genomes]
rs2345714	0.90[ASN][1000 genomes]
rs28462248	0.88[ASN][1000 genomes]
rs35731009	0.82[ASN][1000 genomes]
rs55961693	0.88[ASN][1000 genomes]
rs58427200	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997341	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs5997355	0.90[ASN][1000 genomes]
rs5997363	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997365	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs5997367	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs5997369	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997372	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005724	0.88[ASN][1000 genomes]
rs6005726	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6005733	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6005735	0.95[ASN][1000 genomes]
rs6005751	1.00[ASN][1000 genomes]
rs6005757	0.90[ASN][1000 genomes]
rs6005758	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6005779	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6005780	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6005783	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6005789	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6005793	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73427747	0.95[ASN][1000 genomes]
rs73428082	0.95[ASN][1000 genomes]
rs73428096	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73430108	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7510988	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28741600-28759000	Weak transcription	Fetal Stomach	stomach
2	chr22:28742800-28759600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:28743000-28759000	Weak transcription	Dnd41	blood
4	chr22:28748000-28759600	Weak transcription	Fetal Lung	lung
5	chr22:28752800-28759000	Weak transcription	Ovary	ovary
6	chr22:28752800-28768600	Weak transcription	Left Ventricle	heart
7	chr22:28754000-28759400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:28754400-28759200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:28754600-28759200	Weak transcription	Adipose Nuclei	Adipose
10	chr22:28754800-28757400	Weak transcription	Fetal Heart	heart
11	chr22:28754800-28766000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:28755000-28758000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:28755000-28759200	Weak transcription	Psoas Muscle	Psoas
14	chr22:28755800-28757400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:28755800-28759200	Weak transcription	Right Ventricle	heart
16	chr22:28755800-28759400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr22:28756600-28759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:28757000-28757800	Enhancers	Duodenum Mucosa	Duodenum

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