Variant report

Variant	rs17051299
Chromosome Location	chr4:122078415-122078416
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10004021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518384	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17051301	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051308	1.00[AFR][1000 genomes]
rs17051317	0.84[AFR][1000 genomes]
rs2136941	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2198317	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28648448	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34117851	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35283394	0.83[ASN][1000 genomes]
rs41278073	0.95[EUR][1000 genomes]
rs73843557	0.83[ASN][1000 genomes]
rs7693320	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122077200-122078600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr4:122077200-122078600	Flanking Active TSS	HUVEC	blood vessel
3	chr4:122077200-122078800	Active TSS	Right Atrium	heart
4	chr4:122077200-122079000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr4:122077400-122078600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr4:122077400-122078600	Active TSS	NHLF	lung
7	chr4:122077400-122078800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:122077400-122078800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:122077400-122078800	Active TSS	Right Ventricle	heart
10	chr4:122077600-122078600	Active TSS	Fetal Intestine Large	intestine
11	chr4:122077600-122078800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr4:122077600-122078800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr4:122077800-122078600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:122077800-122078600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:122077800-122078600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr4:122077800-122078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
17	chr4:122077800-122078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
18	chr4:122077800-122078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:122077800-122078600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:122077800-122078600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:122077800-122078600	Active TSS	Brain Germinal Matrix	brain
22	chr4:122077800-122078600	Active TSS	Fetal Brain Female	brain
23	chr4:122077800-122078600	Active TSS	A549	lung
24	chr4:122077800-122078600	Active TSS	NHDF-Ad	bronchial
25	chr4:122077800-122078800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr4:122077800-122078800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:122077800-122078800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr4:122077800-122078800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:122077800-122079000	Active TSS	Thymus	Thymus
30	chr4:122078000-122078600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:122078000-122078600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:122078000-122078600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:122078000-122078600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr4:122078000-122078600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:122078000-122078600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:122078000-122078600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:122078000-122078600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr4:122078000-122078600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr4:122078000-122078600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:122078000-122078600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:122078000-122078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:122078000-122078600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr4:122078000-122078600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:122078000-122078600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr4:122078000-122078600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr4:122078000-122078600	Active TSS	Fetal Heart	heart
47	chr4:122078000-122078600	Active TSS	Ovary	ovary
48	chr4:122078000-122078600	Active TSS	Rectal Smooth Muscle	rectum
49	chr4:122078000-122078600	Enhancers	Small Intestine	intestine
50	chr4:122078000-122078600	Active TSS	HSMMtube	muscle

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