Variant report

Variant	rs17503350
Chromosome Location	chr22:28803391-28803392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1125250	0.91[CEU][hapmap]
rs1303845	0.95[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs134179	1.00[CEU][hapmap]
rs134180	0.95[CEU][hapmap]
rs134183	0.91[CEU][hapmap]
rs134489	0.95[CEU][hapmap]
rs134500	0.95[CEU][hapmap]
rs134507	0.95[CEU][hapmap]
rs134526	0.81[EUR][1000 genomes]
rs134541	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs134543	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs134548	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs34387654	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5762629	0.80[CEU][hapmap]
rs5762680	0.80[CEU][hapmap]
rs695439	0.88[EUR][1000 genomes]
rs695591	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs695625	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs695797	0.89[EUR][1000 genomes]
rs7288403	1.00[YRI][hapmap]

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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28792800-28805200	Weak transcription	Fetal Intestine Large	intestine
2	chr22:28793000-28808200	Weak transcription	Aorta	Aorta
3	chr22:28793000-28808600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:28793000-28814000	Weak transcription	Left Ventricle	heart
5	chr22:28793000-28819800	Weak transcription	Fetal Intestine Small	intestine
6	chr22:28793400-28806200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:28794200-28806000	Weak transcription	NHDF-Ad	bronchial
8	chr22:28794600-28804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:28794600-28804800	Weak transcription	Fetal Stomach	stomach
10	chr22:28794600-28806000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:28794600-28806000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:28795000-28803400	Weak transcription	Brain Anterior Caudate	brain
13	chr22:28798400-28809800	Weak transcription	Fetal Lung	lung
14	chr22:28798600-28803400	Weak transcription	Brain Hippocampus Middle	brain
15	chr22:28798800-28821200	Weak transcription	Dnd41	blood
16	chr22:28799600-28804600	Weak transcription	Psoas Muscle	Psoas
17	chr22:28801000-28804800	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:28801000-28810000	Weak transcription	Fetal Kidney	kidney
19	chr22:28802200-28803800	Enhancers	Fetal Brain Female	brain
20	chr22:28802200-28804200	Enhancers	Fetal Brain Male	brain
21	chr22:28803200-28803400	Enhancers	Ovary	ovary
22	chr22:28803200-28804000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr22:28803200-28804200	Enhancers	Brain Substantia Nigra	brain
24	chr22:28803200-28805400	Enhancers	Brain Cingulate Gyrus	brain

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