Variant report

Variant	rs500579
Chromosome Location	chr13:39991532-39991533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10492738	1.00[MEX][hapmap]

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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39981400-39991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:39981400-39991800	Weak transcription	NHEK	skin
3	chr13:39986800-39992000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:39988600-39991600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:39988600-39992200	Enhancers	Fetal Stomach	stomach
6	chr13:39988600-39994600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:39988600-39995000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:39988800-39994600	Enhancers	Fetal Heart	heart
9	chr13:39989000-39991600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:39989400-39993400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:39989600-39993400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:39989800-39991600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr13:39989800-39991600	Weak transcription	GM12878-XiMat	blood
14	chr13:39989800-39991800	Enhancers	Colon Smooth Muscle	Colon
15	chr13:39989800-39992000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr13:39990000-39991600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:39990000-39991600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:39990000-39991600	Enhancers	HUVEC	blood vessel
19	chr13:39990000-39993400	Enhancers	Fetal Lung	lung
20	chr13:39990200-39991800	Enhancers	Adipose Nuclei	Adipose
21	chr13:39990400-39991600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:39990600-39994600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:39991000-39991600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:39991000-39993200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr13:39991200-39991600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:39991200-39991600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:39991200-39991600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:39991200-39991600	Flanking Active TSS	Right Atrium	heart
29	chr13:39991200-39992000	Enhancers	Brain Germinal Matrix	brain
30	chr13:39991200-39992000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:39991200-39992200	Enhancers	Fetal Muscle Leg	muscle
32	chr13:39991200-39992400	Enhancers	Ovary	ovary
33	chr13:39991200-39994600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:39991400-39991600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:39991400-39991600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:39991400-39991600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:39991400-39991600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr13:39991400-39991600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:39991400-39991600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr13:39991400-39991600	Enhancers	NH-A	brain
41	chr13:39991400-39991800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:39991400-39992000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr13:39991400-39992000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr13:39991400-39992000	Active TSS	Brain Angular Gyrus	brain
45	chr13:39991400-39992000	Active TSS	Brain Cingulate Gyrus	brain
46	chr13:39991400-39992000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr13:39991400-39992000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:39991400-39992000	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr13:39991400-39992000	Enhancers	Fetal Muscle Trunk	muscle
50	chr13:39991400-39992000	Enhancers	Left Ventricle	heart

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