Variant report

Variant	rs55909288
Chromosome Location	chr14:35230598-35230599
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10129577	0.81[ASN][1000 genomes]
rs10133537	0.81[ASN][1000 genomes]
rs10147109	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200415	0.81[ASN][1000 genomes]
rs17102745	0.86[ASN][1000 genomes]
rs2275147	0.90[ASN][1000 genomes]
rs28690092	1.00[ASN][1000 genomes]
rs28804104	1.00[ASN][1000 genomes]
rs56280418	0.81[ASN][1000 genomes]
rs60293526	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60358922	1.00[ASN][1000 genomes]
rs66496703	0.81[ASN][1000 genomes]
rs66935528	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67791098	1.00[ASN][1000 genomes]
rs7148739	0.81[ASN][1000 genomes]
rs8014552	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1040350	chr14:35196524-35245409	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv517328	chr14:35229680-35234894	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv523492	chr14:35229680-35242828	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr14:35216600-35230600	Weak transcription	K562	blood
2	chr14:35218200-35232400	Weak transcription	Psoas Muscle	Psoas
3	chr14:35219200-35230600	Weak transcription	Fetal Kidney	kidney
4	chr14:35219400-35262000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:35219400-35267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:35219600-35254600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:35219800-35231600	Weak transcription	Right Ventricle	heart
8	chr14:35220200-35231000	Weak transcription	Hela-S3	cervix
9	chr14:35220400-35232200	Weak transcription	HSMMtube	muscle
10	chr14:35221000-35234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:35221000-35234600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:35221000-35253200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:35221000-35255800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:35221200-35231000	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:35221200-35233000	Weak transcription	Brain Anterior Caudate	brain
16	chr14:35221200-35262000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr14:35221400-35230600	Weak transcription	Fetal Brain Male	brain
18	chr14:35221400-35234400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:35221400-35234600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:35221400-35234600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:35221600-35234400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr14:35221600-35235400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:35221600-35237400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:35221600-35237800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:35221600-35255400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:35221600-35258800	Strong transcription	Dnd41	blood
28	chr14:35221600-35274600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:35222600-35236200	Strong transcription	Primary T cells from cord blood	blood
30	chr14:35222600-35237200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:35222800-35232200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:35223200-35233600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:35223800-35234400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:35224000-35240400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:35224400-35230600	Weak transcription	NHDF-Ad	bronchial
36	chr14:35224400-35234400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:35224600-35233200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:35224600-35233800	Weak transcription	Brain Angular Gyrus	brain
39	chr14:35224600-35234400	Strong transcription	Fetal Intestine Large	intestine
40	chr14:35224600-35234600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:35224600-35234800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:35224800-35234600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:35225000-35234200	Strong transcription	Fetal Stomach	stomach
44	chr14:35225000-35234400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:35225400-35231400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr14:35225600-35234600	Strong transcription	HUVEC	blood vessel
47	chr14:35225600-35237200	Strong transcription	Fetal Thymus	thymus
48	chr14:35225800-35231800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:35225800-35234400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:35225800-35234600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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