Variant report

Variant	rs55784562
Chromosome Location	chr14:56751214-56751215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12885657	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12893420	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12894473	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17091181	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17091199	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17091214	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34732416	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36063231	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4898894	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71414112	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7144017	0.90[EUR][1000 genomes];0.85[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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:56718400-56755800	Weak transcription	Ovary	ovary
3	chr14:56718800-56751400	Weak transcription	Primary B cells from cord blood	blood
4	chr14:56724600-56755200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:56735200-56755200	Weak transcription	Adipose Nuclei	Adipose
6	chr14:56735800-56751800	Weak transcription	Primary T cells from cord blood	blood
7	chr14:56735800-56765800	Weak transcription	NHLF	lung
8	chr14:56737400-56755800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:56738800-56755800	Weak transcription	Lung	lung
10	chr14:56738800-56766000	Weak transcription	Brain Angular Gyrus	brain
11	chr14:56738800-56775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:56740000-56756000	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:56740000-56757000	Weak transcription	Left Ventricle	heart
14	chr14:56740000-56764800	Weak transcription	Right Ventricle	heart
15	chr14:56741000-56755800	Weak transcription	Fetal Stomach	stomach
16	chr14:56741400-56756000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:56741400-56758200	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:56741600-56755200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:56741600-56755200	Weak transcription	Fetal Intestine Large	intestine
20	chr14:56741600-56766000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:56742000-56757000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:56742600-56751600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:56742600-56755800	Weak transcription	Aorta	Aorta
24	chr14:56743200-56755800	Weak transcription	Pancreas	Pancrea
25	chr14:56743800-56751600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:56744000-56755000	Weak transcription	Thymus	Thymus
27	chr14:56744600-56755000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:56745000-56755000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:56745000-56755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:56746000-56756000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:56746800-56752400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:56746800-56756400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:56747000-56765400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:56747000-56768600	Strong transcription	Dnd41	blood
35	chr14:56747200-56756600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:56748400-56762800	Weak transcription	Stomach Mucosa	stomach
37	chr14:56748600-56756800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:56749000-56755000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:56749000-56762400	Weak transcription	Gastric	stomach
40	chr14:56749200-56755000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:56749400-56756000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:56749600-56752400	Strong transcription	Fetal Thymus	thymus
43	chr14:56750400-56752400	Weak transcription	Fetal Brain Male	brain
44	chr14:56750400-56754400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:56750800-56755600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:56751000-56751800	Strong transcription	Fetal Intestine Small	intestine
48	chr14:56751000-56755000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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