Variant report

Variant	rs1108575
Chromosome Location	chr14:45381290-45381291
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:45381010-45381886	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr14:45381137-45381773	ECC-1	luminal epithelium:	n/a	n/a
3	ZBTB7A	chr14:45381126-45381838	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr14:45381189-45381870	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr14:45381033-45381730	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45380875..45383162-chr14:45604875..45606595,2	MCF-7	breast:
2	chr14:45380945..45382495-chr14:45429574..45431197,2	MCF-7	breast:
3	chr14:45373435..45375914-chr14:45381122..45384110,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258949	TF binding region
ENSG00000187790	Chromatin interaction
ENSG00000179454	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10143572	0.87[AFR][1000 genomes]
rs879340	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription 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
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
9	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45367600-45381400	Weak transcription	HSMM	muscle
2	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:45380800-45381600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr14:45380800-45382000	Active TSS	Stomach Smooth Muscle	stomach
6	chr14:45381000-45381400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:45381000-45381400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:45381000-45381400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr14:45381000-45381400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr14:45381000-45381400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr14:45381000-45381400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
12	chr14:45381000-45381400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:45381000-45381400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:45381000-45381400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr14:45381000-45381400	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr14:45381000-45381400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr14:45381000-45381400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
18	chr14:45381000-45381600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:45381000-45381600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr14:45381000-45381600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:45381000-45381600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
22	chr14:45381000-45381800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr14:45381000-45381800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:45381000-45381800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:45381000-45381800	Active TSS	Aorta	Aorta
26	chr14:45381000-45381800	Active TSS	Brain Anterior Caudate	brain
27	chr14:45381000-45381800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr14:45381000-45382000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:45381000-45382000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
30	chr14:45381000-45382000	Active TSS	Brain Angular Gyrus	brain
31	chr14:45381000-45382000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr14:45381000-45382000	Active TSS	Ovary	ovary
33	chr14:45381000-45382000	Active TSS	Rectal Smooth Muscle	rectum
34	chr14:45381000-45382000	Active TSS	Right Atrium	heart
35	chr14:45381000-45382000	Active TSS	Right Ventricle	heart
36	chr14:45381000-45382000	Active TSS	NH-A	brain
37	chr14:45381000-45383800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:45381200-45381400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:45381200-45381400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
40	chr14:45381200-45381400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:45381200-45381400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:45381200-45381400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:45381200-45381400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:45381200-45381400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:45381200-45381400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
46	chr14:45381200-45381400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr14:45381200-45381400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr14:45381200-45381400	Bivalent Enhancer	Fetal Thymus	thymus
49	chr14:45381200-45381400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
50	chr14:45381200-45381400	Flanking Active TSS	Pancreas	Pancrea

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