Variant report

Variant	rs563118330
Chromosome Location	chr13:30072240-30072241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv561392	chr13:30071245-30091819	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30065000-30077200	Weak transcription	Fetal Brain Female	brain
4	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:30068200-30072600	Weak transcription	Aorta	Aorta
6	chr13:30069600-30072400	Enhancers	Fetal Heart	heart
7	chr13:30070200-30072800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:30070200-30072800	Enhancers	Ovary	ovary
9	chr13:30070200-30072800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr13:30070200-30073200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:30070200-30075600	Enhancers	Fetal Stomach	stomach
12	chr13:30070400-30073000	Enhancers	HSMMtube	muscle
13	chr13:30070600-30072400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr13:30070600-30072600	Enhancers	Fetal Muscle Leg	muscle
15	chr13:30070600-30077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:30070600-30077200	Weak transcription	Brain Anterior Caudate	brain
17	chr13:30070800-30073400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:30070800-30075400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:30071000-30072400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:30071000-30072600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:30071000-30073000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:30071000-30074000	Weak transcription	Gastric	stomach
23	chr13:30071000-30075600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:30071000-30128800	Strong transcription	Dnd41	blood
25	chr13:30071200-30076000	Weak transcription	Fetal Brain Male	brain
26	chr13:30071600-30072400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:30071600-30074000	Weak transcription	Spleen	Spleen
28	chr13:30071600-30075600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:30071600-30075600	Weak transcription	Right Ventricle	heart
30	chr13:30071600-30076800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:30071600-30077000	Weak transcription	Brain Germinal Matrix	brain
32	chr13:30071800-30072400	Enhancers	HSMM	muscle
33	chr13:30071800-30073600	Weak transcription	Fetal Lung	lung
34	chr13:30071800-30074600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:30072000-30074200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:30072000-30075200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:30072000-30078400	Strong transcription	Left Ventricle	heart
38	chr13:30072000-30080400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:30072200-30072400	Flanking Active TSS	Pancreas	Pancrea
40	chr13:30072200-30072400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr13:30072200-30074400	Genic enhancers	Fetal Muscle Trunk	muscle

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