Variant report

Variant	rs559591755
Chromosome Location	chr14:21567631-21567632
allele	-/TT
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	MXI1	chr14:21567550-21567775	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:21567414-21567740	PFSK-1	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:122 , 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	chr14:21565600-21567800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:21565600-21567800	Active TSS	Right Atrium	heart
4	chr14:21566000-21570400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:21566800-21567800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:21566800-21567800	Enhancers	Spleen	Spleen
7	chr14:21567000-21567800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:21567000-21567800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr14:21567000-21567800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr14:21567000-21567800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr14:21567000-21568000	Flanking Active TSS	Fetal Brain Female	brain
12	chr14:21567000-21568200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:21567000-21568200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:21567000-21568200	Flanking Active TSS	Dnd41	blood
15	chr14:21567200-21567800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:21567200-21567800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr14:21567200-21567800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:21567200-21567800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr14:21567200-21567800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr14:21567200-21567800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:21567200-21567800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr14:21567200-21567800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:21567200-21567800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr14:21567200-21567800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr14:21567200-21567800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr14:21567200-21567800	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr14:21567200-21567800	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr14:21567200-21567800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:21567200-21567800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr14:21567200-21567800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr14:21567200-21567800	Flanking Active TSS	HepG2	liver
32	chr14:21567200-21568000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:21567200-21568000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:21567200-21568000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:21567200-21568000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:21567200-21568000	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr14:21567200-21568000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr14:21567200-21568000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr14:21567200-21568200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:21567200-21568200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr14:21567200-21568200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:21567200-21568200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:21567200-21568200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:21567200-21568200	Flanking Active TSS	Fetal Heart	heart
45	chr14:21567200-21568200	Enhancers	Gastric	stomach
46	chr14:21567200-21568200	Flanking Active TSS	HMEC	breast
47	chr14:21567200-21568200	Flanking Active TSS	NHDF-Ad	bronchial
48	chr14:21567200-21568400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr14:21567200-21568400	Flanking Active TSS	NHEK	skin
50	chr14:21567400-21567800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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