Variant report

Variant	rs7992035
Chromosome Location	chr13:50967401-50967402
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	CEBPB	chr13:50967116-50967498	Hela-S3	cervix:	n/a	chr13:50967323-50967334
2	TCF7L2	chr13:50967102-50967410	Hela-S3	cervix:	n/a	n/a
3	GTF2F1	chr13:50967300-50967444	K562	blood:	n/a	n/a
4	EP300	chr13:50967159-50967405	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr13:50967154-50967502	K562	blood:	n/a	chr13:50967323-50967334
6	CEBPB	chr13:50967158-50967432	H1-hESC	embryonic stem cell:	n/a	chr13:50967323-50967334
7	CEBPB	chr13:50967206-50967516	MCF-7	breast:	n/a	chr13:50967323-50967334
8	CEBPB	chr13:50967157-50967471	A549	lung:	n/a	chr13:50967323-50967334
9	CEBPB	chr13:50967141-50967507	IMR90	lung:	n/a	chr13:50967323-50967334
10	STAT3	chr13:50967287-50967487	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr13:50967147-50967505	HepG2	liver:	n/a	chr13:50967323-50967334

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50965877..50968068-chr13:50974962..50976646,2	MCF-7	breast:
2	chr13:50965613..50967584-chr13:50985177..50987137,2	K562	blood:

Variant related genes	Relation type
DLEU1	TF binding region
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58111567	1.00[AMR][1000 genomes]
rs73498093	0.86[AFR][1000 genomes]
rs73498096	0.84[AFR][1000 genomes]
rs73500225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500262	1.00[AMR][1000 genomes]
rs73500287	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500300	1.00[AMR][1000 genomes]
rs74079217	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8001263	1.00[AMR][1000 genomes]
rs9591331	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50961600-50967600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:50961600-50967600	Weak transcription	Aorta	Aorta
3	chr13:50961600-50967800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:50961600-50967800	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:50961600-50973800	Weak transcription	Brain Substantia Nigra	brain
6	chr13:50961600-50974200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:50961600-50974200	Weak transcription	Osteobl	bone
8	chr13:50961600-50974600	Weak transcription	Right Atrium	heart
9	chr13:50961800-50974200	Weak transcription	Psoas Muscle	Psoas
10	chr13:50962400-50967800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr13:50962400-50968000	Weak transcription	HSMM	muscle
12	chr13:50963400-50967800	Weak transcription	Thymus	Thymus
13	chr13:50964200-50967800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:50964400-50967600	Enhancers	Liver	Liver
15	chr13:50964600-50967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:50964600-50967600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:50964800-50967800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:50965000-50967600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:50965000-50967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:50965000-50967800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:50965000-50967800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:50965000-50969600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:50965200-50967600	Weak transcription	Lung	lung
24	chr13:50965200-50967800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:50965200-50969800	Weak transcription	HMEC	breast
26	chr13:50965200-50974600	Weak transcription	HepG2	liver
27	chr13:50965200-50977000	Weak transcription	Esophagus	oesophagus
28	chr13:50966400-50967600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr13:50966400-50968000	Enhancers	K562	blood
30	chr13:50966400-50968200	Enhancers	Fetal Heart	heart
31	chr13:50966400-50968200	Enhancers	Fetal Muscle Leg	muscle
32	chr13:50966400-50968200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr13:50966400-50968400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:50966600-50979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:50967000-50968000	Enhancers	Brain Germinal Matrix	brain
36	chr13:50967000-50968200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:50967000-50968200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr13:50967000-50968200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:50967000-50968200	Enhancers	Fetal Lung	lung
40	chr13:50967200-50968200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr13:50967200-50968200	Enhancers	Fetal Thymus	thymus
42	chr13:50967400-50967600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:50967400-50967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:50967400-50968200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr13:50967400-50968200	Enhancers	HSMMtube	muscle
46	chr13:50967400-50968400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:50967400-50974600	Weak transcription	Left Ventricle	heart

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