Variant report

Variant	rs17415416
Chromosome Location	chr14:33067358-33067359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10144948	0.82[AMR][1000 genomes]
rs10151427	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1155069	0.80[AMR][1000 genomes]
rs11626416	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12880113	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12887176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506512	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28401565	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981990	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71419918	0.91[AMR][1000 genomes];0.81[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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33057800-33078200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:33058200-33067400	Enhancers	NHDF-Ad	bronchial
3	chr14:33059400-33072000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:33061000-33067400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:33061600-33067800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:33061800-33067400	Enhancers	HMEC	breast
7	chr14:33063600-33067600	Weak transcription	Fetal Heart	heart
8	chr14:33064000-33071200	Weak transcription	Aorta	Aorta
9	chr14:33064200-33070200	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:33064600-33067600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr14:33064600-33068000	Weak transcription	Brain Angular Gyrus	brain
12	chr14:33064600-33070200	Weak transcription	Brain Anterior Caudate	brain
13	chr14:33064600-33071400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:33064600-33071400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:33064600-33071400	Weak transcription	Left Ventricle	heart
16	chr14:33064600-33071400	Weak transcription	Right Ventricle	heart
17	chr14:33064600-33074600	Weak transcription	Psoas Muscle	Psoas
18	chr14:33064600-33075600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:33064800-33069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:33064800-33069800	Weak transcription	HSMMtube	muscle
21	chr14:33064800-33070800	Weak transcription	Fetal Stomach	stomach
22	chr14:33064800-33071000	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:33064800-33071600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:33064800-33079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:33065000-33070400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:33066000-33071200	Weak transcription	NHLF	lung
27	chr14:33066200-33067400	Enhancers	HSMM	muscle
28	chr14:33066200-33069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:33066400-33067800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:33066400-33069800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:33066600-33067600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:33067000-33067400	Weak transcription	Brain Germinal Matrix	brain
33	chr14:33067000-33067600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:33067200-33067400	Enhancers	Osteobl	bone
35	chr14:33067200-33067800	Enhancers	Brain Hippocampus Middle	brain
36	chr14:33067200-33069800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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