Variant report

Variant	rs9588242
Chromosome Location	chr13:111349894-111349895
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111348523..111351928-chr13:111363890..111366242,4	K562	blood:
2	chr13:111348126..111353752-chr13:111353903..111360039,12	K562	blood:

Variant related genes	Relation type
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11843815	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296654	0.84[EUR][1000 genomes]
rs28513972	0.82[EUR][1000 genomes]
rs2986091	0.82[ASN][1000 genomes]
rs2986328	0.82[ASN][1000 genomes]
rs56414424	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58135183	0.91[ASN][1000 genomes]
rs59287460	0.82[AMR][1000 genomes]
rs66957475	0.82[EUR][1000 genomes]
rs72485652	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72661682	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72661690	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72661692	0.91[EUR][1000 genomes]
rs72661697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661698	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72661700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72663405	0.82[EUR][1000 genomes]
rs7326465	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336657	0.82[EUR][1000 genomes]
rs7984286	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7986886	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9301475	0.82[EUR][1000 genomes]
rs9583528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111302200-111351400	Weak transcription	Stomach Mucosa	stomach
2	chr13:111310800-111352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:111311600-111352000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:111319800-111354600	Weak transcription	Fetal Heart	heart
6	chr13:111327800-111355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:111328000-111354000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:111328000-111354800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:111328000-111356600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:111328400-111355600	Strong transcription	NHEK	skin
11	chr13:111329000-111354800	Strong transcription	Fetal Stomach	stomach
12	chr13:111330000-111355000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:111330400-111355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:111332600-111356600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:111333400-111350200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr13:111334600-111351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:111334800-111351600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr13:111335400-111354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr13:111337000-111350200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:111337000-111355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:111337800-111353800	Weak transcription	K562	blood
22	chr13:111338200-111351600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr13:111339000-111351400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr13:111339400-111354600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:111339600-111351600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:111339600-111355400	Weak transcription	Small Intestine	intestine
27	chr13:111339800-111351400	Weak transcription	HUVEC	blood vessel
28	chr13:111340400-111350800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:111340600-111351200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr13:111341800-111350000	Weak transcription	HepG2	liver
31	chr13:111342200-111351600	Weak transcription	HSMMtube	muscle
32	chr13:111343000-111351200	Weak transcription	Colon Smooth Muscle	Colon
33	chr13:111343200-111350800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:111343200-111352200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:111343200-111354800	Weak transcription	Psoas Muscle	Psoas
36	chr13:111343200-111355000	Weak transcription	Right Atrium	heart
37	chr13:111343400-111351400	Weak transcription	Fetal Kidney	kidney
38	chr13:111343600-111351000	Weak transcription	Esophagus	oesophagus
39	chr13:111344800-111356200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr13:111345400-111351800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:111345400-111352000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:111345400-111354400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:111345400-111354400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:111345400-111354600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr13:111345600-111350200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:111345600-111351400	Strong transcription	Fetal Muscle Leg	muscle
47	chr13:111345600-111354200	Strong transcription	Liver	Liver
48	chr13:111345600-111355000	Strong transcription	Fetal Brain Female	brain
49	chr13:111345800-111354400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:111346000-111350000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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