Variant report

Variant	rs57782545
Chromosome Location	chr13:50797529-50797530
allele	A/C
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	TCF7L2	chr13:50796737-50797729	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr13:50796306-50797950	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr13:50796985-50797597	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr13:50796865-50797555	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr13:50796850-50797537	PANC-1	pancreas:	n/a	n/a
6	KAP1	chr13:50796815-50797611	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
DLEU1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12870774	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066655	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34859199	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71436211	1.00[EUR][1000 genomes]
rs71436213	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50790400-50799400	Weak transcription	HepG2	liver
2	chr13:50793600-50799200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:50795400-50799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:50795800-50797800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr13:50795800-50800600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr13:50795800-50801000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:50796000-50797600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr13:50796200-50797600	Flanking Active TSS	HSMMtube	muscle
9	chr13:50796200-50804000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:50796600-50797600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:50796600-50797600	Enhancers	Liver	Liver
12	chr13:50796600-50797600	Enhancers	Stomach Mucosa	stomach
13	chr13:50796800-50797600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:50796800-50797600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:50796800-50797600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:50796800-50797600	Enhancers	NH-A	brain
17	chr13:50796800-50798200	Enhancers	Fetal Muscle Leg	muscle
18	chr13:50796800-50799400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:50797000-50797600	Enhancers	Brain Angular Gyrus	brain
20	chr13:50797000-50797600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr13:50797000-50797600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr13:50797000-50797600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr13:50797000-50804200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr13:50797200-50797600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:50797200-50797600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:50797200-50797600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:50797200-50797600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:50797200-50797600	Enhancers	Adipose Nuclei	Adipose
29	chr13:50797200-50797600	Enhancers	Brain Hippocampus Middle	brain
30	chr13:50797200-50797600	Enhancers	HSMM	muscle
31	chr13:50797200-50797800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:50797200-50799000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:50797200-50799600	Enhancers	HMEC	breast
34	chr13:50797200-50801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr13:50797200-50801600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr13:50797200-50802600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:50797200-50802800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr13:50797400-50797600	Enhancers	Brain Substantia Nigra	brain
39	chr13:50797400-50797600	Enhancers	Fetal Lung	lung
40	chr13:50797400-50797600	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:50797400-50797600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr13:50797400-50797600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:50797400-50797600	Enhancers	NHLF	lung
44	chr13:50797400-50798000	Weak transcription	Gastric	stomach
45	chr13:50797400-50798200	Enhancers	Brain Anterior Caudate	brain
46	chr13:50797400-50798800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr13:50797400-50798800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:50797400-50799000	Enhancers	NHDF-Ad	bronchial
49	chr13:50797400-50799200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr13:50797400-50799600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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