Variant report

Variant	rs1999015
Chromosome Location	chr13:111040299-111040300
allele	C/T
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:4)

rs_ID	r²[population]
rs1999014	1.00[AMR][1000 genomes]
rs2391826	1.00[AMR][1000 genomes]
rs4771677	1.00[AMR][1000 genomes]
rs7319219	1.00[AMR][1000 genomes]

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3447880	chr13:111035851-111040549	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv563120	chr13:111037854-111040798	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:111038400-111044200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:111038600-111041200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111038800-111041000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:111039200-111041400	Enhancers	Fetal Thymus	thymus
6	chr13:111039200-111045600	Enhancers	Placenta	Placenta
7	chr13:111039400-111041800	Enhancers	Fetal Stomach	stomach
8	chr13:111039600-111040400	Enhancers	Fetal Heart	heart
9	chr13:111039600-111040400	Enhancers	HUVEC	blood vessel
10	chr13:111039600-111040600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:111039600-111040800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:111039600-111040800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:111039600-111040800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr13:111039600-111040800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:111039600-111041000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:111039600-111041000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:111039600-111041000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr13:111039600-111041200	Enhancers	Lung	lung
19	chr13:111039600-111041400	Enhancers	Esophagus	oesophagus
20	chr13:111039600-111041600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:111039600-111041600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:111039600-111041600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:111039600-111041800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr13:111039600-111042000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:111039800-111040400	Enhancers	Psoas Muscle	Psoas
26	chr13:111039800-111040400	Flanking Active TSS	Right Atrium	heart
27	chr13:111039800-111040600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr13:111039800-111040600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:111039800-111040600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr13:111039800-111040800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:111039800-111041000	Enhancers	Primary hematopoietic stem cells	blood
32	chr13:111039800-111041000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr13:111039800-111041000	Flanking Active TSS	HMEC	breast
34	chr13:111039800-111041000	Flanking Active TSS	NHEK	skin
35	chr13:111039800-111041400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr13:111039800-111041400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:111039800-111041400	Flanking Active TSS	HSMM	muscle
38	chr13:111039800-111042600	Genic enhancers	NH-A	brain
39	chr13:111040000-111040400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr13:111040000-111040400	Active TSS	Ovary	ovary
41	chr13:111040000-111040400	Weak transcription	Spleen	Spleen
42	chr13:111040000-111040600	Enhancers	Primary B cells from peripheral blood	blood
43	chr13:111040000-111040800	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr13:111040000-111040800	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr13:111040000-111041000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr13:111040000-111041000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr13:111040000-111041200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:111040000-111041400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr13:111040000-111041400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:111040000-111041400	Enhancers	Duodenum Mucosa	Duodenum

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