Variant report

Variant	rs57046561
Chromosome Location	chr14:21777553-21777554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21776722..21779291-chr14:21780222..21782831,3	K562	blood:
2	chr14:21731798..21735401-chr14:21775005..21778167,4	MCF-7	breast:
3	chr14:21735883..21738830-chr14:21774715..21778854,7	MCF-7	breast:
4	chr14:21775315..21780554-chr14:21785592..21789539,5	K562	blood:
5	chr14:21736279..21738855-chr14:21774365..21778910,7	K562	blood:
6	chr14:21774765..21778578-chr14:21848688..21854259,7	MCF-7	breast:
7	chr14:21776722..21779782-chr14:21780222..21783756,4	K562	blood:
8	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
9	chr14:21777189..21779079-chr14:21786297..21788417,2	MCF-7	breast:
10	chr14:21734939..21739093-chr14:21774613..21780791,11	K562	blood:
11	chr14:21775799..21777853-chr14:21792862..21795336,2	MCF-7	breast:
12	chr14:21776403..21778650-chr14:21847769..21849405,2	K562	blood:
13	chr14:21730115..21732637-chr14:21776169..21779224,3	MCF-7	breast:
14	chr14:21730591..21733022-chr14:21775297..21777656,3	K562	blood:
15	chr14:21775315..21780588-chr14:21785592..21789606,7	K562	blood:
16	chr14:21777230..21779351-chr14:21782852..21785830,2	MCF-7	breast:
17	chr14:21775709..21778456-chr14:21815008..21816691,2	MCF-7	breast:
18	chr14:21774301..21777973-chr14:21828099..21831298,3	K562	blood:
19	chr14:21673277..21675794-chr14:21775419..21778094,2	MCF-7	breast:
20	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:
21	chr14:21735133..21741012-chr14:21774869..21780347,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000092201	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000092200	Chromatin interaction
ENSG00000258441	Chromatin interaction
ENSG00000092199	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57149584	1.00[AMR][1000 genomes]
rs57189871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74034936	1.00[AMR][1000 genomes]
rs74034937	1.00[AMR][1000 genomes]
rs74037716	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	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
12	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	esv3339520	chr14:21741166-21806074	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1054778	chr14:21762940-21802579	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	esv3375728	chr14:21777137-21779685	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21776000-21777600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:21776000-21777600	Flanking Active TSS	HepG2	liver
3	chr14:21776200-21777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:21776200-21777600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr14:21776200-21777600	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:21776200-21777600	Enhancers	Small Intestine	intestine
7	chr14:21776400-21777600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr14:21776400-21777600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:21776400-21777600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr14:21776400-21777600	Active TSS	Brain Cingulate Gyrus	brain
11	chr14:21776400-21777600	Active TSS	Fetal Brain Female	brain
12	chr14:21776400-21777800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:21776400-21777800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:21776600-21777600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr14:21776600-21777600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:21776600-21777600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:21776600-21777600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr14:21776600-21777600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr14:21776600-21777600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr14:21776600-21777600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:21776600-21777600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:21776600-21777600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:21776600-21777600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:21776600-21777600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr14:21776600-21777600	Active TSS	Brain Hippocampus Middle	brain
26	chr14:21776600-21777600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr14:21776600-21777600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:21776600-21777600	Active TSS	Colonic Mucosa	Colon
29	chr14:21776600-21777600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr14:21776600-21777600	Active TSS	Fetal Muscle Trunk	muscle
31	chr14:21776600-21777600	Active TSS	Fetal Stomach	stomach
32	chr14:21776600-21777600	Flanking Active TSS	Fetal Thymus	thymus
33	chr14:21776800-21777600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:21776800-21777600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr14:21776800-21777600	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr14:21776800-21777800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:21776800-21777800	Enhancers	Spleen	Spleen
38	chr14:21777000-21777600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:21777000-21777600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:21777000-21777600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:21777000-21777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:21777000-21777600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:21777000-21777600	Enhancers	Fetal Heart	heart
44	chr14:21777000-21777600	Enhancers	HMEC	breast
45	chr14:21777000-21777800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:21777000-21777800	Active TSS	Duodenum Mucosa	Duodenum
47	chr14:21777200-21777600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr14:21777200-21777600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr14:21777200-21777600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr14:21777200-21777600	Flanking Active TSS	Primary B cells from peripheral blood	blood

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