Variant report

Variant	rs9588241
Chromosome Location	chr13:111343407-111343408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111340529..111343866-chr13:111358060..111360020,4	K562	blood:
2	chr13:111341286..111343605-chr13:111352948..111355342,2	K562	blood:
3	chr13:111340758..111343844-chr13:111351055..111354448,3	K562	blood:
4	chr13:111335534..111341041-chr13:111341252..111346282,8	K562	blood:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12385854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2038952	1.00[AMR][1000 genomes]
rs28649796	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56085843	0.83[AFR][1000 genomes]
rs56682720	1.00[AMR][1000 genomes]
rs57218754	1.00[AMR][1000 genomes]
rs60757091	1.00[AMR][1000 genomes]
rs74125030	0.81[AFR][1000 genomes]
rs74125060	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74125092	1.00[AMR][1000 genomes]
rs9588238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	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
9	esv1819597	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1824622	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1818673	chr13:111329426-111343888	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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

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	chr13:111319800-111348400	Weak transcription	Fetal Brain Male	brain
6	chr13:111319800-111354600	Weak transcription	Fetal Heart	heart
7	chr13:111322800-111349600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:111327800-111344200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:111327800-111347400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:111327800-111355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:111328000-111343600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr13:111328000-111344200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:111328000-111344200	Strong transcription	Primary T cells from cord blood	blood
14	chr13:111328000-111344200	Strong transcription	Dnd41	blood
15	chr13:111328000-111347600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:111328000-111354000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:111328000-111354800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:111328000-111356600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:111328400-111355600	Strong transcription	NHEK	skin
20	chr13:111329000-111344000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:111329000-111354800	Strong transcription	Fetal Stomach	stomach
22	chr13:111329200-111349200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr13:111329400-111343600	Strong transcription	Placenta	Placenta
24	chr13:111329400-111343600	Strong transcription	Spleen	Spleen
25	chr13:111330000-111355000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:111330400-111343600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:111330400-111344200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr13:111330400-111349400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr13:111330400-111355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:111330800-111349200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr13:111331800-111348200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr13:111332200-111344200	Strong transcription	GM12878-XiMat	blood
33	chr13:111332600-111356600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:111333400-111350200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr13:111334400-111349400	Weak transcription	A549	lung
36	chr13:111334600-111351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:111334800-111351600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr13:111335400-111354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr13:111336600-111348200	Weak transcription	Colonic Mucosa	Colon
40	chr13:111336600-111349400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:111336600-111349600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:111337000-111350200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:111337000-111355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:111337400-111343600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr13:111337800-111343600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr13:111337800-111353800	Weak transcription	K562	blood
47	chr13:111338200-111347400	Strong transcription	NHDF-Ad	bronchial
48	chr13:111338200-111351600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr13:111338400-111347600	Strong transcription	Fetal Intestine Small	intestine
50	chr13:111338600-111348200	Strong transcription	Fetal Intestine Large	intestine

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