Variant report

Variant	rs536796122
Chromosome Location	chr13:111357716-111357717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111357509..111359061-chr13:111566329..111568110,2	MCF-7	breast:
2	chr1:179718648..179719326-chr13:111357431..111357953,2	Hela-S3	cervix:
3	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:
4	chr13:111266587..111269692-chr13:111357018..111359356,4	K562	blood:

Variant related genes	Relation type
ENSG00000213995	Chromatin interaction
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
5	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
6	esv1818465	chr13:111329426-111360585	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv1820532	chr13:111329426-111360585	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv1823336	chr13:111329535-111360585	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv519282	chr13:111343888-111360585	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
10	esv3345776	chr13:111356851-111361549	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111355600-111357800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:111355600-111357800	Weak transcription	Aorta	Aorta
3	chr13:111355600-111358000	Weak transcription	Small Intestine	intestine
4	chr13:111355800-111358000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:111355800-111358000	Weak transcription	Gastric	stomach
6	chr13:111356200-111357800	Weak transcription	Esophagus	oesophagus
7	chr13:111356400-111357800	Flanking Active TSS	HMEC	breast
8	chr13:111356600-111358400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:111356600-111358800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:111356800-111358800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:111357000-111357800	Flanking Active TSS	NHEK	skin
12	chr13:111357000-111358000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:111357000-111358000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:111357000-111358200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr13:111357200-111357800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr13:111357200-111357800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr13:111357200-111357800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr13:111357200-111357800	Enhancers	Brain Substantia Nigra	brain
19	chr13:111357200-111357800	Flanking Active TSS	Fetal Brain Male	brain
20	chr13:111357200-111357800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr13:111357200-111357800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr13:111357200-111358000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:111357200-111358000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr13:111357200-111358000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr13:111357200-111358000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr13:111357200-111358000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr13:111357200-111358000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:111357200-111358000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr13:111357200-111358000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr13:111357200-111358000	Flanking Active TSS	Dnd41	blood
31	chr13:111357200-111358000	Flanking Active TSS	HUVEC	blood vessel
32	chr13:111357200-111358000	Flanking Active TSS	NH-A	brain
33	chr13:111357200-111358000	Flanking Active TSS	Osteobl	bone
34	chr13:111357200-111358200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr13:111357200-111358200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:111357200-111358200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:111357200-111358200	Flanking Active TSS	Fetal Brain Female	brain
38	chr13:111357200-111358800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr13:111357200-111358800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:111357200-111358800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:111357200-111358800	Active TSS	NHDF-Ad	bronchial
42	chr13:111357200-111359000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:111357200-111359400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:111357400-111357800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr13:111357400-111357800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:111357400-111357800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:111357400-111357800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr13:111357400-111357800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:111357400-111357800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:111357400-111357800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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