Variant report

Variant	rs536421752
Chromosome Location	chr14:21567465-21567466
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	chr14:21567414-21567740	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr14:21567305-21567501	IMR90	lung:	n/a	n/a
3	MAZ	chr14:21565837-21567596	IMR90	lung:	n/a	chr14:21565867-21565877 chr14:21566942-21566952 chr14:21567574-21567581
4	MYC	chr14:21566907-21567470	MCF10A-Er-Src	breast:	n/a	chr14:21566942-21566952
5	GATA2	chr14:21566701-21567565	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21538435..21540879-chr14:21565246..21568452,4	K562	blood:
2	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
3	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21565400-21568000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr14:21565600-21567600	Active TSS	Aorta	Aorta
3	chr14:21565600-21567600	Active TSS	Esophagus	oesophagus
4	chr14:21565600-21567800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:21565600-21567800	Active TSS	Right Atrium	heart
6	chr14:21565800-21567600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:21565800-21567600	Active TSS	Colonic Mucosa	Colon
8	chr14:21566000-21567600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:21566000-21567600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:21566000-21567600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:21566000-21570400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:21566600-21567600	Active TSS	A549	lung
13	chr14:21566800-21567600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:21566800-21567600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:21566800-21567600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:21566800-21567600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
17	chr14:21566800-21567600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr14:21566800-21567800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:21566800-21567800	Enhancers	Spleen	Spleen
20	chr14:21567000-21567600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr14:21567000-21567600	Flanking Active TSS	Fetal Stomach	stomach
22	chr14:21567000-21567600	Flanking Active TSS	HSMM	muscle
23	chr14:21567000-21567600	Flanking Bivalent TSS/Enh	NH-A	brain
24	chr14:21567000-21567800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:21567000-21567800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr14:21567000-21567800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr14:21567000-21567800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr14:21567000-21568000	Flanking Active TSS	Fetal Brain Female	brain
29	chr14:21567000-21568200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr14:21567000-21568200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:21567000-21568200	Flanking Active TSS	Dnd41	blood
32	chr14:21567200-21567600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:21567200-21567600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:21567200-21567600	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr14:21567200-21567600	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr14:21567200-21567600	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr14:21567200-21567600	Flanking Active TSS	Fetal Brain Male	brain
38	chr14:21567200-21567600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:21567200-21567600	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr14:21567200-21567600	Flanking Active TSS	K562	blood
41	chr14:21567200-21567600	Flanking Bivalent TSS/Enh	NHLF	lung
42	chr14:21567200-21567800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:21567200-21567800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr14:21567200-21567800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:21567200-21567800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr14:21567200-21567800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr14:21567200-21567800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr14:21567200-21567800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr14:21567200-21567800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:21567200-21567800	Flanking Active TSS	Brain Hippocampus Middle	brain

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