Variant report

Variant	rs57254369
Chromosome Location	chr14:21885718-21885719
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21883102..21885831-chr14:21901937..21903563,2	K562	blood:
2	chr14:21885310..21887748-chr14:21890138..21892937,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17104027	0.83[EUR][1000 genomes]
rs17105120	0.89[EUR][1000 genomes]
rs56085953	0.89[EUR][1000 genomes]
rs57968228	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61752837	0.83[EUR][1000 genomes]
rs61971519	0.83[EUR][1000 genomes]
rs61971521	0.83[EUR][1000 genomes]
rs61971523	0.83[EUR][1000 genomes]
rs61971524	0.89[EUR][1000 genomes]
rs61971525	0.83[EUR][1000 genomes]
rs61973163	0.89[EUR][1000 genomes]
rs61973164	0.89[EUR][1000 genomes]
rs61973165	0.89[EUR][1000 genomes]
rs61973169	0.89[EUR][1000 genomes]
rs61973170	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61973172	0.83[EUR][1000 genomes]
rs61973173	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61973174	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61973175	0.89[EUR][1000 genomes]
rs61973178	0.89[EUR][1000 genomes]
rs61973179	0.89[EUR][1000 genomes]
rs61973181	0.89[EUR][1000 genomes]
rs61973182	0.89[EUR][1000 genomes]
rs61973183	0.89[EUR][1000 genomes]
rs61977522	0.83[EUR][1000 genomes]
rs61977523	0.83[EUR][1000 genomes]
rs7141803	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8016474	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8021793	0.83[EUR][1000 genomes]
rs8022558	0.89[EUR][1000 genomes]
rs8023081	0.89[EUR][1000 genomes]
rs9944063	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21853200-21904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21853400-21900000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:21853400-21900000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:21853400-21900000	Strong transcription	Adipose Nuclei	Adipose
5	chr14:21853400-21900000	Strong transcription	Placenta	Placenta
6	chr14:21853400-21900200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:21853400-21901800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:21853600-21885800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:21853600-21886800	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:21853600-21888800	Strong transcription	Fetal Intestine Large	intestine
11	chr14:21853600-21897200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr14:21853600-21900000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:21853600-21900200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:21853600-21900200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:21853600-21901400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:21853600-21902000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:21853600-21903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:21853800-21900000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:21853800-21900000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:21853800-21900200	Strong transcription	Fetal Thymus	thymus
21	chr14:21853800-21901400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:21854000-21885800	Strong transcription	HepG2	liver
23	chr14:21854000-21900200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:21854000-21904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:21854400-21886400	Strong transcription	Dnd41	blood
26	chr14:21854400-21900000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:21854400-21900200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:21855200-21900200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:21855600-21897000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:21855600-21899200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:21855800-21900200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:21855800-21900200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:21856000-21900000	Strong transcription	Liver	Liver
34	chr14:21856000-21900200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr14:21856200-21899800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:21856400-21900800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr14:21856600-21886600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:21856600-21900000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:21856800-21888600	Strong transcription	Brain Hippocampus Middle	brain
40	chr14:21856800-21900000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr14:21857000-21900800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:21858200-21885800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:21865800-21887800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:21874000-21900400	Strong transcription	HUVEC	blood vessel
45	chr14:21875400-21888000	Weak transcription	Stomach Mucosa	stomach
46	chr14:21877000-21900000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:21877200-21885800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:21877200-21900800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:21877600-21896200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr14:21877600-21900200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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