Variant report

Variant	rs372643204
Chromosome Location	chr13:52597853-52597854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52596842..52598775-chr13:52613940..52616833,2	K562	blood:
2	chr13:52592255..52594860-chr13:52597501..52600884,3	K562	blood:
3	chr13:52584543..52591722-chr13:52593134..52598355,11	K562	blood:

Variant related genes	Relation type
ENSG00000253710	Chromatin interaction
ENSG00000123191	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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv3492939	chr13:52597220-52599545	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv3492941	chr13:52597220-52599545	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	esv3383575	chr13:52597451-52600449	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52587000-52598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:52587000-52598800	Weak transcription	Small Intestine	intestine
3	chr13:52587000-52600000	Weak transcription	Esophagus	oesophagus
4	chr13:52587200-52600000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:52587400-52598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:52587400-52598200	Weak transcription	Right Ventricle	heart
7	chr13:52587400-52598400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:52587400-52598800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:52587400-52600000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:52587600-52598000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:52587600-52598000	Weak transcription	Fetal Kidney	kidney
12	chr13:52587600-52598400	Weak transcription	Brain Substantia Nigra	brain
13	chr13:52587600-52599400	Weak transcription	Stomach Mucosa	stomach
14	chr13:52587800-52598200	Weak transcription	Fetal Heart	heart
15	chr13:52588000-52598000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:52588000-52609200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr13:52588000-52617400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:52588200-52598000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:52588200-52598200	Weak transcription	NHDF-Ad	bronchial
20	chr13:52588200-52602200	Weak transcription	Hela-S3	cervix
21	chr13:52589400-52605200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr13:52589800-52603400	Strong transcription	Placenta	Placenta
23	chr13:52589800-52605400	Strong transcription	Fetal Thymus	thymus
24	chr13:52590000-52604400	Strong transcription	Primary T cells from cord blood	blood
25	chr13:52590200-52600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:52590200-52603400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:52590400-52598800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:52590400-52599200	Strong transcription	Fetal Muscle Leg	muscle
29	chr13:52590400-52602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:52590600-52601400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr13:52590600-52604200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:52590800-52599000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr13:52591000-52599400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:52591000-52599400	Weak transcription	Pancreas	Pancrea
35	chr13:52591000-52599800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:52591000-52604600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:52591400-52598200	Weak transcription	Aorta	Aorta
38	chr13:52591600-52603400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr13:52591600-52603400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr13:52591600-52604000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr13:52591800-52599400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr13:52591800-52599800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr13:52591800-52603600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:52591800-52603800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr13:52592000-52599800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:52592400-52598200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr13:52592400-52600000	Weak transcription	Gastric	stomach
48	chr13:52592600-52601000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr13:52593000-52598600	Strong transcription	Liver	Liver
50	chr13:52593200-52598200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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