Variant report

Variant	rs73497575
Chromosome Location	chr13:51418350-51418351
allele	C/T
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	E2F6	chr13:51417212-51418561	H1-hESC	embryonic stem cell:	n/a	chr13:51417920-51417929 chr13:51417835-51417844 chr13:51418130-51418139
2	CTBP2	chr13:51417099-51418470	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr13:51416899-51418358	H1-hESC	embryonic stem cell:	n/a	chr13:51418131-51418141 chr13:51417836-51417846
4	E2F6	chr13:51417164-51418561	H1-hESC	embryonic stem cell:	n/a	chr13:51417920-51417929 chr13:51417835-51417844 chr13:51417171-51417180 chr13:51418130-51418139
5	CTCF	chr13:51418200-51418350	HBMEC	blood vessel:	n/a	n/a
6	MAX	chr13:51417677-51418421	H1-hESC	embryonic stem cell:	n/a	chr13:51418131-51418141 chr13:51417836-51417846

Variant related genes	Relation type
DLEU7	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs58524744	1.00[AMR][1000 genomes]
rs59628841	1.00[AMR][1000 genomes]
rs59955074	1.00[AMR][1000 genomes]
rs73483736	1.00[AMR][1000 genomes]
rs73490019	1.00[AMR][1000 genomes]
rs73490042	1.00[AMR][1000 genomes]
rs73490056	1.00[AMR][1000 genomes]
rs73490060	1.00[AMR][1000 genomes]
rs73492016	1.00[AMR][1000 genomes]
rs73492050	1.00[AMR][1000 genomes]
rs73492077	1.00[AMR][1000 genomes]
rs73492079	1.00[AMR][1000 genomes]
rs73495648	1.00[AMR][1000 genomes]
rs73497513	1.00[AFR][1000 genomes]
rs73497566	1.00[AFR][1000 genomes]
rs73497578	1.00[AFR][1000 genomes]
rs73497583	1.00[AFR][1000 genomes]
rs73497601	1.00[AMR][1000 genomes]
rs73501621	1.00[AMR][1000 genomes]
rs74078134	1.00[AMR][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	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
2	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
3	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51416200-51418400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:51416400-51418600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:51416800-51418400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr13:51417000-51418400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:51417000-51418400	Active TSS	Brain Substantia Nigra	brain
6	chr13:51417000-51418400	Enhancers	Fetal Heart	heart
7	chr13:51417000-51418600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr13:51417400-51418400	Enhancers	Fetal Brain Male	brain
9	chr13:51417800-51418400	Flanking Active TSS	Fetal Thymus	thymus
10	chr13:51417800-51419000	Flanking Active TSS	Dnd41	blood
11	chr13:51418000-51418400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr13:51418000-51418400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:51418000-51418400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr13:51418000-51418400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr13:51418000-51418400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:51418000-51418400	Weak transcription	Aorta	Aorta
17	chr13:51418000-51418400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr13:51418000-51418400	Bivalent Enhancer	NHDF-Ad	bronchial
19	chr13:51418000-51418600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:51418000-51418800	Enhancers	Thymus	Thymus
21	chr13:51418000-51419400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr13:51418000-51419800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:51418000-51420600	Weak transcription	Psoas Muscle	Psoas
24	chr13:51418000-51421000	Weak transcription	Liver	Liver
25	chr13:51418200-51418400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
26	chr13:51418200-51418400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:51418200-51418400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr13:51418200-51418400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr13:51418200-51418400	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr13:51418200-51418400	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr13:51418200-51418400	Flanking Active TSS	Fetal Kidney	kidney
32	chr13:51418200-51418400	Enhancers	Fetal Muscle Trunk	muscle
33	chr13:51418200-51418600	Flanking Active TSS	Fetal Brain Female	brain
34	chr13:51418200-51418800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:51418200-51419000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:51418200-51419000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:51418200-51419000	Enhancers	HSMM	muscle
38	chr13:51418200-51419200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:51418200-51419200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:51418200-51419600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr13:51418200-51419800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:51418200-51420200	Weak transcription	Primary T cells from cord blood	blood
43	chr13:51418200-51420400	Weak transcription	Primary B cells from cord blood	blood
44	chr13:51418200-51420400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr13:51418200-51421000	Weak transcription	Primary hematopoietic stem cells	blood

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