Variant report

Variant	rs9332253
Chromosome Location	chr13:48811533-48811534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48811286..48815057-chr13:48876543..48879640,3	MCF-7	breast:
2	chr13:48809762..48812244-chr13:48818383..48819991,2	K562	blood:
3	chr13:48808662..48812732-chr13:48820679..48824988,4	K562	blood:
4	chr13:48803757..48809033-chr13:48809443..48816513,10	MCF-7	breast:
5	chr13:48807837..48812135-chr13:48876736..48879539,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231473	Chromatin interaction
ENSG00000136156	Chromatin interaction
ENSG00000139687	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs4151420	0.83[EUR][1000 genomes]
rs4151421	0.83[EUR][1000 genomes]
rs4151424	0.83[EUR][1000 genomes]
rs4151425	0.83[EUR][1000 genomes]
rs4151426	0.83[EUR][1000 genomes]
rs4151430	0.83[EUR][1000 genomes]
rs4151433	0.83[EUR][1000 genomes]
rs4151436	0.83[EUR][1000 genomes]
rs4151440	0.83[EUR][1000 genomes]
rs4151445	0.83[EUR][1000 genomes]
rs4151463	0.83[EUR][1000 genomes]
rs4151469	0.83[EUR][1000 genomes]
rs4151475	0.83[EUR][1000 genomes]
rs4151480	0.83[EUR][1000 genomes]
rs4151498	0.83[EUR][1000 genomes]
rs4151505	0.83[EUR][1000 genomes]
rs4151529	0.83[EUR][1000 genomes]
rs4151536	0.83[EUR][1000 genomes]
rs4151555	0.83[EUR][1000 genomes]
rs4151560	0.83[EUR][1000 genomes]
rs4151564	0.83[EUR][1000 genomes]
rs4151567	0.83[EUR][1000 genomes]
rs4151578	0.83[EUR][1000 genomes]
rs9332258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48806600-48812200	Active TSS	Ovary	ovary
2	chr13:48806600-48812200	Active TSS	Right Atrium	heart
3	chr13:48808200-48812000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr13:48808400-48811800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr13:48808400-48815200	Weak transcription	Esophagus	oesophagus
6	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:48808800-48811600	Flanking Active TSS	Osteobl	bone
10	chr13:48808800-48811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:48808800-48812200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr13:48809000-48811600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr13:48809000-48811600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr13:48809200-48811600	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr13:48809200-48812200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:48809200-48812400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr13:48809400-48811600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
18	chr13:48809400-48811600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:48809400-48812200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr13:48809600-48812000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:48809600-48812000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr13:48809600-48812200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:48809600-48812200	Enhancers	A549	lung
24	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:48809800-48811600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr13:48809800-48811600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:48809800-48811600	Enhancers	Small Intestine	intestine
28	chr13:48809800-48812400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
29	chr13:48809800-48812600	Flanking Active TSS	NHEK	skin
30	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:48810000-48811600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr13:48810000-48811600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:48810000-48811800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:48810000-48811800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:48810000-48811800	Flanking Active TSS	Fetal Brain Female	brain
36	chr13:48810000-48812000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:48810000-48812000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr13:48810000-48812200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:48810000-48812200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr13:48810000-48812200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr13:48810000-48812200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr13:48810000-48813400	Weak transcription	Lung	lung
43	chr13:48810000-48813400	Weak transcription	Pancreas	Pancrea
44	chr13:48810000-48813600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr13:48810200-48811600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:48810200-48811600	Enhancers	Fetal Intestine Large	intestine
47	chr13:48810200-48811600	Enhancers	Fetal Intestine Small	intestine
48	chr13:48810200-48811600	Genic enhancers	Placenta	Placenta
49	chr13:48810200-48811600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr13:48810200-48811800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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