Variant report

Variant	rs28443178
Chromosome Location	chr17:67012235-67012236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12103819	1.00[EUR][1000 genomes]
rs16973446	1.00[EUR][1000 genomes]
rs16973452	1.00[EUR][1000 genomes]
rs16973503	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1807406	1.00[EUR][1000 genomes]
rs28439676	1.00[EUR][1000 genomes]
rs28450507	1.00[EUR][1000 genomes]
rs28490038	1.00[EUR][1000 genomes]
rs4419114	1.00[EUR][1000 genomes]
rs60216404	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213306	1.00[EUR][1000 genomes]
rs7217379	1.00[EUR][1000 genomes]
rs7222838	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8070045	1.00[EUR][1000 genomes]
rs8076776	1.00[EUR][1000 genomes]
rs8076973	1.00[EUR][1000 genomes]
rs9303000	1.00[EUR][1000 genomes]
rs9303001	1.00[EUR][1000 genomes]
rs960929	1.00[EUR][1000 genomes]
rs9892575	1.00[EUR][1000 genomes]
rs9893247	1.00[EUR][1000 genomes]
rs9893792	1.00[EUR][1000 genomes]
rs9894190	1.00[EUR][1000 genomes]
rs9894209	1.00[EUR][1000 genomes]
rs9894350	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896584	1.00[EUR][1000 genomes]
rs9898739	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900030	1.00[EUR][1000 genomes]
rs9910875	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911906	1.00[EUR][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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 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	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
3	chr17:67001200-67014600	Strong transcription	Adipose Nuclei	Adipose
4	chr17:67002400-67013200	Weak transcription	Fetal Lung	lung
5	chr17:67003800-67030600	Weak transcription	Brain Angular Gyrus	brain
6	chr17:67004000-67023400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:67006000-67013200	Weak transcription	Psoas Muscle	Psoas
8	chr17:67007600-67016800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:67007600-67042200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr17:67008400-67044000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:67009200-67043200	Weak transcription	Pancreas	Pancrea
12	chr17:67009400-67044000	Weak transcription	Colon Smooth Muscle	Colon
13	chr17:67010400-67041200	Weak transcription	NHDF-Ad	bronchial
14	chr17:67010600-67014600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:67011000-67014600	Weak transcription	HUVEC	blood vessel
16	chr17:67011000-67017600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:67011200-67013600	Weak transcription	HepG2	liver
18	chr17:67011400-67013200	Weak transcription	Liver	Liver
19	chr17:67011400-67027200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr17:67011400-67032600	Weak transcription	Fetal Muscle Leg	muscle
21	chr17:67011600-67013600	Weak transcription	Ovary	ovary
22	chr17:67011600-67022400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr17:67011600-67039200	Weak transcription	Left Ventricle	heart
24	chr17:67012200-67014800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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