Variant report

Variant	rs73490081
Chromosome Location	chr13:51267386-51267387
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1323887	0.85[EUR][1000 genomes]
rs2476619	0.83[EUR][1000 genomes]
rs2476624	0.85[EUR][1000 genomes]
rs2497092	0.86[EUR][1000 genomes]
rs2497094	0.85[EUR][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	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51254400-51267800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:51256200-51268400	Enhancers	Fetal Thymus	thymus
3	chr13:51259800-51268400	Weak transcription	Small Intestine	intestine
4	chr13:51260200-51268000	Weak transcription	HMEC	breast
5	chr13:51261200-51267600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:51264600-51269400	Enhancers	Left Ventricle	heart
7	chr13:51264800-51267600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:51264800-51267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:51265000-51267800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:51265000-51268600	Enhancers	Brain Hippocampus Middle	brain
11	chr13:51265000-51268600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr13:51265200-51267600	Weak transcription	Brain Germinal Matrix	brain
13	chr13:51265200-51267600	Enhancers	Osteobl	bone
14	chr13:51265200-51275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:51265400-51267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:51265400-51268600	Enhancers	HSMMtube	muscle
17	chr13:51265400-51269200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:51265600-51268600	Enhancers	NH-A	brain
19	chr13:51265600-51269000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:51265600-51269600	Enhancers	Fetal Heart	heart
21	chr13:51265800-51267600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:51266000-51267400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:51266000-51267400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:51266000-51267600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:51266000-51267600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:51266000-51268000	Weak transcription	Brain Angular Gyrus	brain
27	chr13:51266000-51271800	Weak transcription	Primary T cells from cord blood	blood
28	chr13:51266000-51274600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr13:51266200-51267400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr13:51266200-51267600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:51266200-51267600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:51266200-51267600	Weak transcription	Brain Anterior Caudate	brain
33	chr13:51266200-51268000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:51266200-51268600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:51266400-51267400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:51266400-51267600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr13:51266400-51267600	Weak transcription	Fetal Lung	lung
38	chr13:51266400-51267600	Weak transcription	Lung	lung
39	chr13:51266400-51267800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:51266400-51268000	Weak transcription	Colon Smooth Muscle	Colon
41	chr13:51266400-51271600	Weak transcription	Right Ventricle	heart
42	chr13:51266400-51272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:51266600-51267600	Weak transcription	Fetal Stomach	stomach
44	chr13:51266600-51267600	Weak transcription	NHDF-Ad	bronchial
45	chr13:51266600-51270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:51266800-51267600	Weak transcription	Stomach Mucosa	stomach
47	chr13:51266800-51267800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:51266800-51267800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:51266800-51268000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr13:51266800-51268400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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