Variant report

Variant	rs550759574
Chromosome Location	chr14:21565834-21565835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21565020-21566202	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:21565045-21566036	HepG2	liver:	n/a	n/a
3	MAZ	chr14:21565760-21566393	HepG2	liver:	n/a	chr14:21565867-21565877
4	TAF1	chr14:21565766-21566166	H1-neurons	neurons:	n/a	n/a
5	SIN3A	chr14:21565409-21566096	H1-hESC	embryonic stem cell:	n/a	chr14:21565653-21565662 chr14:21565908-21565921
6	ZBTB7A	chr14:21565644-21566386	HepG2	liver:	n/a	chr14:21566236-21566244
7	POLR2A	chr14:21565304-21566238	H1-neurons	neurons:	n/a	n/a
8	TAF1	chr14:21565734-21566087	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr14:21565156-21566323	H1-neurons	neurons:	n/a	chr14:21565286-21565299 chr14:21565914-21565927
10	TAF1	chr14:21565641-21566111	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:21565292-21566036	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:21564991-21565967	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:21565768-21565972	H1-hESC	embryonic stem cell:	n/a	n/a
14	HEY1	chr14:21565618-21566012	HepG2	liver:	n/a	chr14:21565903-21565918
15	HDAC2	chr14:21565734-21566178	HepG2	liver:	n/a	n/a
16	CHD2	chr14:21565722-21566195	HepG2	liver:	n/a	chr14:21566153-21566163
17	POLR2A	chr14:21565786-21565902	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:21565534-21566152	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:21565779-21565963	HepG2	liver:	n/a	n/a
20	MAX	chr14:21565505-21565947	H1-hESC	embryonic stem cell:	n/a	chr14:21565867-21565877 chr14:21565651-21565662
21	POLR2A	chr14:21565325-21566191	H1-neurons	neurons:	n/a	n/a
22	HEY1	chr14:21565094-21566018	HepG2	liver:	n/a	chr14:21565903-21565918
23	POLR2A	chr14:21565638-21566049	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21493465..21495146-chr14:21564517..21566869,2	K562	blood:
2	chr14:21493156..21496539-chr14:21563277..21566869,4	K562	blood:
3	chr14:21538435..21540879-chr14:21565246..21568452,4	K562	blood:
4	chr14:21560808..21562943-chr14:21563849..21565971,2	K562	blood:
5	chr14:21559218..21562308-chr14:21563084..21566776,3	K562	blood:
6	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
7	chr14:21529965..21532217-chr14:21564746..21566795,2	MCF-7	breast:
8	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:
9	chr14:21488163..21490230-chr14:21563775..21566660,2	K562	blood:

Variant related genes	Relation type
ZNF219	TF binding region
TMEM253	TF binding region
ENSG00000165801	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000165795	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	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
8	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	esv3490839	chr14:21565112-21567760	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3490842	chr14:21565112-21567760	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3423964	chr14:21565137-21567985	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3324236	chr14:21565662-21567360	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:21555800-21566200	Weak transcription	HSMM	muscle
2	chr14:21558800-21566600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:21559800-21566600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:21561600-21566600	Weak transcription	Gastric	stomach
5	chr14:21561600-21566800	Weak transcription	Spleen	Spleen
6	chr14:21562000-21566000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:21562200-21566800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:21562600-21566800	Weak transcription	Liver	Liver
9	chr14:21564400-21566000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:21564400-21566000	Enhancers	Left Ventricle	heart
11	chr14:21564600-21566000	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:21564600-21566600	Weak transcription	Osteobl	bone
13	chr14:21564600-21566800	Enhancers	Placenta	Placenta
14	chr14:21564800-21566000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:21564800-21566000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:21564800-21566000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:21564800-21567000	Active TSS	Fetal Brain Female	brain
18	chr14:21565000-21566000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr14:21565000-21566000	Flanking Active TSS	A549	lung
20	chr14:21565000-21566000	Flanking Active TSS	HMEC	breast
21	chr14:21565000-21567400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr14:21565200-21566000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:21565200-21566000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:21565200-21566000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:21565200-21566000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:21565200-21566000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:21565200-21566000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:21565200-21566000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:21565200-21566000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr14:21565200-21566000	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr14:21565200-21566000	Active TSS	Fetal Kidney	kidney
32	chr14:21565200-21566000	Flanking Active TSS	Fetal Thymus	thymus
33	chr14:21565200-21566000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr14:21565200-21566000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr14:21565200-21567400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:21565200-21567400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:21565400-21566000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:21565400-21566000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:21565400-21566000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr14:21565400-21566000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr14:21565400-21566000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr14:21565400-21566000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:21565400-21566000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:21565400-21566000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:21565400-21566000	Enhancers	Fetal Brain Male	brain
46	chr14:21565400-21566000	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr14:21565400-21566200	Flanking Active TSS	Dnd41	blood
48	chr14:21565400-21566800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:21565400-21567000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr14:21565400-21567200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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