Variant report

Variant	rs28536542
Chromosome Location	chr4:148549910-148549911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10010511	1.00[AMR][1000 genomes]
rs10015122	1.00[AMR][1000 genomes]
rs10305935	1.00[AMR][1000 genomes]
rs10305938	1.00[AMR][1000 genomes]
rs17023637	1.00[AMR][1000 genomes]
rs17023724	1.00[AMR][1000 genomes]
rs17023733	1.00[AMR][1000 genomes]
rs17023744	1.00[AMR][1000 genomes]
rs17023757	1.00[AMR][1000 genomes]
rs17023761	1.00[AMR][1000 genomes]
rs17023763	1.00[AMR][1000 genomes]
rs17023771	1.00[AMR][1000 genomes]
rs28412528	1.00[AMR][1000 genomes]
rs28416759	1.00[AMR][1000 genomes]
rs28437023	1.00[AMR][1000 genomes]
rs28476507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28559891	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28706741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5339	1.00[AMR][1000 genomes]
rs5340	1.00[AMR][1000 genomes]
rs9991057	1.00[AMR][1000 genomes]
rs9992593	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148539400-148576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:148539600-148554200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:148539800-148550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:148539800-148557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:148540800-148561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:148541400-148554800	Weak transcription	A549	lung
7	chr4:148541400-148563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:148542200-148564200	Strong transcription	Fetal Thymus	thymus
9	chr4:148542400-148560400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:148542400-148562200	Weak transcription	Fetal Brain Male	brain
11	chr4:148542400-148575000	Weak transcription	Small Intestine	intestine
12	chr4:148542400-148576600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:148542600-148554000	Weak transcription	Brain Anterior Caudate	brain
14	chr4:148542600-148557000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:148542600-148565200	Weak transcription	Fetal Heart	heart
16	chr4:148542600-148567400	Weak transcription	Stomach Mucosa	stomach
17	chr4:148543000-148560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:148543200-148550800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:148543200-148551200	Strong transcription	Primary T cells from cord blood	blood
20	chr4:148543200-148559600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:148543200-148560800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr4:148543400-148553600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:148543600-148559000	Strong transcription	Placenta	Placenta
24	chr4:148543600-148560000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:148543800-148550200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:148543800-148550200	Strong transcription	Primary B cells from cord blood	blood
27	chr4:148543800-148550600	Strong transcription	Fetal Brain Female	brain
28	chr4:148543800-148550800	Strong transcription	Fetal Intestine Large	intestine
29	chr4:148543800-148551600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:148543800-148552400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:148543800-148558200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:148543800-148558800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr4:148543800-148559000	Strong transcription	Osteobl	bone
34	chr4:148543800-148559800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr4:148543800-148560000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:148543800-148560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:148543800-148560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:148543800-148560400	Strong transcription	HSMM	muscle
39	chr4:148543800-148563800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:148543800-148564200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:148543800-148565400	Strong transcription	Liver	Liver
42	chr4:148544000-148554200	Weak transcription	Brain Angular Gyrus	brain
43	chr4:148544000-148558800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:148544000-148560000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:148544200-148553000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:148544200-148557000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:148544400-148560200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:148544600-148550600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:148544600-148553000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:148544600-148560600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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