Variant report

Variant	rs17040524
Chromosome Location	chr4:110484389-110484390
allele	A/C
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]
rs11932787	0.83[EUR][1000 genomes]
rs11936024	0.83[EUR][1000 genomes]
rs11936922	0.83[EUR][1000 genomes]
rs11938121	0.83[EUR][1000 genomes]
rs11943569	0.83[EUR][1000 genomes]
rs11946147	0.83[EUR][1000 genomes]
rs17040395	0.83[EUR][1000 genomes]
rs17040401	0.83[EUR][1000 genomes]
rs34839272	0.83[EUR][1000 genomes]
rs56137934	0.83[EUR][1000 genomes]
rs56717127	0.83[EUR][1000 genomes]
rs57334274	0.83[EUR][1000 genomes]
rs58850082	0.83[EUR][1000 genomes]
rs59069711	0.83[EUR][1000 genomes]
rs6831048	0.86[EUR][1000 genomes]
rs6841710	0.83[EUR][1000 genomes]
rs6845967	0.83[EUR][1000 genomes]
rs73838811	0.83[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110482200-110484800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr4:110482200-110485200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr4:110482400-110485200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:110482600-110484600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr4:110482800-110484400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:110482800-110484600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr4:110482800-110484800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr4:110482800-110494400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:110482800-110495400	Weak transcription	Stomach Mucosa	stomach
10	chr4:110483000-110484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:110483000-110484600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:110483000-110484800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:110483000-110484800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:110483000-110484800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:110483000-110498200	Weak transcription	HMEC	breast
16	chr4:110483200-110484400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:110483200-110484400	Enhancers	Thymus	Thymus
18	chr4:110483200-110494400	Weak transcription	NHLF	lung
19	chr4:110483400-110484400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:110483400-110484400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:110483400-110484400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:110483400-110484400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr4:110483400-110485600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr4:110483400-110486000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:110483400-110486200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:110483400-110487000	Weak transcription	NHDF-Ad	bronchial
27	chr4:110483400-110490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:110483400-110494000	Weak transcription	HSMM	muscle
29	chr4:110483600-110484400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr4:110483600-110484600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:110483600-110484600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:110483600-110485000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:110483800-110484400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:110484000-110484400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:110484000-110484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:110484000-110485000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:110484000-110486200	Weak transcription	Primary B cells from cord blood	blood
38	chr4:110484000-110486800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:110484000-110492400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr4:110484000-110496000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:110484200-110484400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:110484200-110484400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:110484200-110484400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:110484200-110484400	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr4:110484200-110484400	Flanking Active TSS	Dnd41	blood
46	chr4:110484200-110484400	Enhancers	HUVEC	blood vessel
47	chr4:110484200-110484600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:110484200-110484600	Active TSS	Fetal Brain Female	brain
49	chr4:110484200-110484800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr4:110484200-110484800	Active TSS	GM12878-XiMat	blood

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