Variant report

Variant	rs546730901
Chromosome Location	chr13:51059159-51059160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51057495..51060887-chr13:51065845..51068156,3	K562	blood:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv526482	chr13:51042258-51065836	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv510585	chr13:51057884-51083783	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51041800-51060600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:51053400-51060200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:51056400-51060200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:51058400-51059200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr13:51058400-51059200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:51058400-51061400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:51058400-51061400	Enhancers	Fetal Heart	heart
8	chr13:51058600-51059200	Enhancers	HMEC	breast
9	chr13:51058600-51060200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:51058800-51059200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr13:51058800-51059200	Enhancers	Fetal Stomach	stomach
12	chr13:51059000-51059200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:51059000-51059200	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr13:51059000-51059200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr13:51059000-51059200	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr13:51059000-51059200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr13:51059000-51059200	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr13:51059000-51059200	Flanking Active TSS	Ovary	ovary
19	chr13:51059000-51059200	Enhancers	K562	blood
20	chr13:51059000-51059200	Enhancers	NH-A	brain
21	chr13:51059000-51059800	Weak transcription	Fetal Lung	lung
22	chr13:51059000-51060000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:51059000-51060000	Weak transcription	NHLF	lung
24	chr13:51059000-51060200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:51059000-51060400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:51059000-51060400	Enhancers	Osteobl	bone
27	chr13:51059000-51060600	Weak transcription	Right Atrium	heart
28	chr13:51059000-51061200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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