Variant report

Variant	rs74046535
Chromosome Location	chr14:45382489-45382490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:45382190-45383400	A549	lung:	n/a	chr14:45383038-45383045 chr14:45383036-45383057

No.	Distal block	Cell Line	Cell type
1	chr14:45382430..45383552-chr14:45722137..45722911,3	MCF-7	breast:
2	chr14:45380875..45383162-chr14:45604875..45606595,2	MCF-7	breast:
3	chr14:45382331..45385097-chr14:45486659..45488651,2	MCF-7	breast:
4	chr14:45380945..45382495-chr14:45429574..45431197,2	MCF-7	breast:
5	chr14:45373435..45375914-chr14:45381122..45384110,3	MCF-7	breast:
6	chr14:45381313..45383842-chr14:45552963..45554882,2	K562	blood:

Variant related genes	Relation type
ENSG00000258949	TF binding region
ENSG00000249163	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000129534	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11846502	0.83[AFR][1000 genomes]
rs17115692	0.83[AFR][1000 genomes]
rs55875939	1.00[AMR][1000 genomes]
rs56803309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57261684	0.84[AFR][1000 genomes]
rs57489965	0.84[AFR][1000 genomes]
rs73334118	0.83[AFR][1000 genomes]
rs73334121	0.82[AFR][1000 genomes]
rs74046527	0.93[AFR][1000 genomes]
rs74046529	0.93[AFR][1000 genomes]
rs74046533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8016080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45381000-45383800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:45381200-45382800	Weak transcription	Fetal Heart	heart
5	chr14:45381800-45382800	Weak transcription	Osteobl	bone
6	chr14:45381800-45384000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:45381800-45384000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:45381800-45384000	Weak transcription	NHDF-Ad	bronchial
9	chr14:45381800-45384200	Weak transcription	Gastric	stomach
10	chr14:45382000-45382600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:45382000-45382800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:45382000-45383000	Enhancers	Colon Smooth Muscle	Colon
13	chr14:45382000-45384000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:45382000-45384000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:45382000-45384000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:45382000-45384000	Weak transcription	Right Atrium	heart
17	chr14:45382000-45384200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:45382000-45400600	Weak transcription	Left Ventricle	heart
19	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
20	chr14:45382200-45382600	Flanking Active TSS	HepG2	liver
21	chr14:45382200-45383200	Enhancers	Adipose Nuclei	Adipose

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