Variant report

Variant	rs9588244
Chromosome Location	chr13:111355080-111355081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111354377..111357375-chr13:111522032..111524115,2	K562	blood:
2	chr13:111354215..111355804-chr13:111356852..111360371,4	MCF-7	breast:
3	chr13:111328169..111330528-chr13:111354350..111356160,2	K562	blood:
4	chr13:111341286..111343605-chr13:111352948..111355342,2	K562	blood:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction
ENSG00000255874	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2038952	0.82[AFR][1000 genomes]
rs74125060	0.84[AFR][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	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111328000-111356600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:111328400-111355600	Strong transcription	NHEK	skin
4	chr13:111330400-111355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:111332600-111356600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:111339600-111355400	Weak transcription	Small Intestine	intestine
7	chr13:111344800-111356200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr13:111346000-111355800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr13:111347000-111355400	Strong transcription	Adipose Nuclei	Adipose
10	chr13:111349000-111355200	Strong transcription	Fetal Intestine Large	intestine
11	chr13:111349200-111355600	Strong transcription	Fetal Intestine Small	intestine
12	chr13:111349200-111355800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:111349400-111356000	Strong transcription	Primary T cells from cord blood	blood
14	chr13:111350800-111355600	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr13:111352000-111355200	Strong transcription	Primary B cells from cord blood	blood
16	chr13:111352000-111356400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:111352200-111355600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr13:111352200-111356200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr13:111352400-111356400	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr13:111352400-111357200	Weak transcription	HUVEC	blood vessel
21	chr13:111352600-111355400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr13:111352800-111355800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:111353200-111357200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr13:111353400-111357200	Weak transcription	Brain Anterior Caudate	brain
25	chr13:111353400-111357600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:111353600-111355200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:111353600-111355400	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:111353600-111357200	Weak transcription	Brain Substantia Nigra	brain
29	chr13:111353800-111356400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:111353800-111357200	Weak transcription	Colonic Mucosa	Colon
31	chr13:111354000-111355200	Weak transcription	Brain Angular Gyrus	brain
32	chr13:111354000-111355800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr13:111354000-111355800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr13:111354000-111356600	Genic enhancers	Fetal Muscle Leg	muscle
35	chr13:111354000-111357200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr13:111354200-111355400	Weak transcription	Left Ventricle	heart
37	chr13:111354200-111355800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:111354200-111356000	Genic enhancers	Hela-S3	cervix
39	chr13:111354200-111357200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr13:111354200-111357200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:111354200-111357200	Weak transcription	Liver	Liver
42	chr13:111354200-111357400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:111354200-111357400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:111354400-111355400	Weak transcription	Fetal Thymus	thymus
45	chr13:111354400-111355600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:111354400-111355800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:111354400-111356000	Genic enhancers	NHDF-Ad	bronchial
48	chr13:111354400-111356200	Genic enhancers	Fetal Lung	lung
49	chr13:111354400-111356200	Enhancers	NH-A	brain
50	chr13:111354400-111356400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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