Variant report

Variant	rs134544
Chromosome Location	chr22:28798679-28798680
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10427676	0.96[ASN][1000 genomes]
rs134522	0.86[CEU][hapmap]
rs134527	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs134529	0.82[CEU][hapmap]
rs134545	0.85[CEU][hapmap]
rs17412920	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17504822	0.94[ASN][1000 genomes]
rs5752728	0.92[ASN][1000 genomes]
rs5752729	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs5752746	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762572	0.96[ASN][1000 genomes]
rs5762604	0.96[ASN][1000 genomes]
rs5762622	0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs5762654	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs5762656	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs5762659	0.87[ASN][1000 genomes]
rs5762666	0.91[ASN][1000 genomes]
rs5762686	0.89[JPT][hapmap]
rs6005754	0.85[CEU][hapmap]
rs6005790	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs6519751	0.81[AFR][1000 genomes]
rs695318	0.82[CEU][hapmap]
rs695388	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs695567	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs695629	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs695700	0.82[CEU][hapmap]
rs695709	0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7286920	0.89[ASN][1000 genomes]
rs7288416	0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7289516	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73168176	0.97[ASN][1000 genomes]
rs738995	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9306454	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs9306455	0.84[ASN][1000 genomes]
rs9306458	0.93[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9613609	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9613617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9613630	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9613639	0.91[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28791400-28800400	Weak transcription	Fetal Muscle Leg	muscle
2	chr22:28792600-28801800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:28792800-28805200	Weak transcription	Fetal Intestine Large	intestine
4	chr22:28793000-28808200	Weak transcription	Aorta	Aorta
5	chr22:28793000-28808600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:28793000-28814000	Weak transcription	Left Ventricle	heart
7	chr22:28793000-28819800	Weak transcription	Fetal Intestine Small	intestine
8	chr22:28793400-28806200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:28794200-28806000	Weak transcription	NHDF-Ad	bronchial
10	chr22:28794600-28804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:28794600-28804800	Weak transcription	Fetal Stomach	stomach
12	chr22:28794600-28806000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28794600-28806000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:28795000-28803400	Weak transcription	Brain Anterior Caudate	brain
15	chr22:28795200-28803200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:28796600-28802200	Weak transcription	Fetal Brain Female	brain
17	chr22:28797400-28799000	Enhancers	Psoas Muscle	Psoas
18	chr22:28797800-28798800	Enhancers	Fetal Brain Male	brain
19	chr22:28798000-28798800	Strong transcription	Dnd41	blood
20	chr22:28798400-28802600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:28798400-28809800	Weak transcription	Fetal Lung	lung
22	chr22:28798600-28803400	Weak transcription	Brain Hippocampus Middle	brain

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