Variant report

Variant	rs547169145
Chromosome Location	chr13:53262529-53262530
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv900088	chr13:53250839-53274936	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv974092	chr13:53261895-53262658	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
15	esv1833952	chr13:53262175-53274936	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53229000-53276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:53229200-53268000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:53230200-53263600	Weak transcription	Stomach Mucosa	stomach
4	chr13:53230400-53266400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:53230600-53266400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr13:53230800-53277400	Weak transcription	Gastric	stomach
7	chr13:53231800-53266400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr13:53235200-53276000	Weak transcription	Right Ventricle	heart
9	chr13:53239200-53265600	Weak transcription	Brain Angular Gyrus	brain
10	chr13:53240600-53264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:53240600-53275800	Weak transcription	K562	blood
12	chr13:53242800-53278600	Weak transcription	Psoas Muscle	Psoas
13	chr13:53245400-53263800	Strong transcription	Dnd41	blood
14	chr13:53245600-53263600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr13:53248400-53265200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:53248600-53263400	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr13:53248600-53265200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:53249000-53263400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr13:53249000-53263400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr13:53249000-53263600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr13:53249000-53266400	Strong transcription	Liver	Liver
22	chr13:53249000-53266400	Strong transcription	Fetal Intestine Large	intestine
23	chr13:53249000-53266600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:53249000-53267400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:53249200-53263400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr13:53249200-53265200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:53249600-53262800	Strong transcription	Fetal Thymus	thymus
28	chr13:53249800-53266000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr13:53250000-53263800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:53250000-53265000	Weak transcription	Hela-S3	cervix
31	chr13:53250400-53263400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:53250600-53263400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:53250800-53266600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:53251000-53263600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr13:53251400-53267400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr13:53252400-53263000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:53253800-53263800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:53254200-53275800	Weak transcription	Fetal Heart	heart
39	chr13:53254800-53273600	Weak transcription	Fetal Kidney	kidney
40	chr13:53255800-53273800	Weak transcription	A549	lung
41	chr13:53255800-53277600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr13:53256000-53270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:53256000-53282600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr13:53256400-53269800	Weak transcription	Brain Substantia Nigra	brain
45	chr13:53256600-53266000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:53256600-53267200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:53256600-53297800	Weak transcription	Pancreas	Pancrea
48	chr13:53256800-53264800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:53256800-53265000	Weak transcription	Esophagus	oesophagus
50	chr13:53256800-53270000	Weak transcription	Fetal Brain Female	brain

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