Variant report

Variant	rs72732799
Chromosome Location	chr5:14747225-14747226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10036729	0.87[EUR][1000 genomes]
rs10052744	0.87[EUR][1000 genomes]
rs10080009	0.88[EUR][1000 genomes]
rs149554	0.80[EUR][1000 genomes]
rs152932	0.87[EUR][1000 genomes]
rs153921	1.00[EUR][1000 genomes]
rs153922	0.88[EUR][1000 genomes]
rs153923	0.85[EUR][1000 genomes]
rs153924	0.86[EUR][1000 genomes]
rs153925	0.87[EUR][1000 genomes]
rs153926	1.00[EUR][1000 genomes]
rs1697126	0.97[EUR][1000 genomes]
rs17250963	0.87[EUR][1000 genomes]
rs187483	0.95[EUR][1000 genomes]
rs59068551	0.96[EUR][1000 genomes]
rs697565	0.98[EUR][1000 genomes]
rs697572	0.87[EUR][1000 genomes]
rs72732801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2756652	chr5:14745268-14750481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14727200-14748000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:14727200-14757000	Weak transcription	NHLF	lung
4	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
5	chr5:14729600-14752600	Strong transcription	Fetal Intestine Large	intestine
6	chr5:14729800-14749400	Strong transcription	Fetal Intestine Small	intestine
7	chr5:14730000-14758400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:14733400-14750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:14733400-14753000	Weak transcription	Fetal Brain Male	brain
10	chr5:14736600-14752200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr5:14736600-14760000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:14736800-14752800	Weak transcription	A549	lung
13	chr5:14736800-14753800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr5:14736800-14757400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr5:14737000-14754200	Strong transcription	Liver	Liver
16	chr5:14737800-14759200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:14737800-14759400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:14738200-14749400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:14739600-14749200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:14739600-14753800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:14739800-14751200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:14740800-14748800	Weak transcription	NHEK	skin
23	chr5:14740800-14751400	Strong transcription	Adipose Nuclei	Adipose
24	chr5:14740800-14755200	Weak transcription	NHDF-Ad	bronchial
25	chr5:14741000-14749400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:14741000-14752000	Weak transcription	Fetal Lung	lung
27	chr5:14741600-14748200	Weak transcription	Stomach Mucosa	stomach
28	chr5:14741600-14753800	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:14741600-14767800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:14741800-14750400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:14742000-14748400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:14742000-14749800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:14742000-14751600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:14742400-14748000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:14742400-14748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:14742400-14752600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:14742800-14756600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr5:14742800-14758400	Strong transcription	Primary T cells from cord blood	blood
39	chr5:14743000-14747600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:14743000-14756800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr5:14744200-14757400	Strong transcription	Dnd41	blood
42	chr5:14744600-14748200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:14744600-14749000	Strong transcription	Fetal Stomach	stomach
44	chr5:14744600-14751000	Strong transcription	Fetal Brain Female	brain
45	chr5:14744600-14758600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:14744600-14761800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:14744600-14775800	Weak transcription	NH-A	brain
48	chr5:14744800-14749000	Strong transcription	Colonic Mucosa	Colon
49	chr5:14744800-14751000	Strong transcription	Brain Germinal Matrix	brain
50	chr5:14744800-14751400	Strong transcription	Brain Anterior Caudate	brain

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