Variant report

Variant	rs7141182
Chromosome Location	chr14:20922258-20922259
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr14:20922202-20924681	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr14:20922109-20925008	SK-N-SH	brain:	n/a	chr14:20923359-20923368 chr14:20923277-20923286 chr14:20923340-20923349 chr14:20923361-20923370

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20922188..20924523-chr20:23341669..23343744,2	MCF-7	breast:
2	chr14:20823563..20825778-chr14:20921246..20923289,2	K562	blood:
3	chr14:20859803..20863356-chr14:20921399..20924080,5	MCF-7	breast:
4	chr14:20876151..20895555-chr14:20920787..20932243,67	MCF-7	breast:
5	chr14:20921951..20924190-chr14:21076242..21078948,2	MCF-7	breast:
6	chr14:20807684..20813516-chr14:20919958..20928823,14	K562	blood:
7	chr14:20879246..20888994-chr14:20918445..20930702,42	MCF-7	breast:
8	chr14:20772687..20775435-chr14:20922031..20924000,2	MCF-7	breast:
9	chr14:20916584..20919855-chr14:20919945..20922892,5	K562	blood:
10	chr14:20799471..20803739-chr14:20921169..20925160,5	MCF-7	breast:
11	chr14:20809943..20813054-chr14:20921915..20924936,4	MCF-7	breast:
12	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
13	chr14:20871884..20873608-chr14:20922156..20924986,2	MCF-7	breast:
14	chr14:20921981..20924966-chr14:21455832..21458950,3	MCF-7	breast:

No data

Variant related genes	Relation type
APEX1	TF binding region
OSGEP	TF binding region
ENSG00000200225	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000125812	Chromatin interaction
ENSG00000258459	Chromatin interaction
ENSG00000254846	Chromatin interaction
ENSG00000165792	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000258515	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000100814	Chromatin interaction
ENSG00000136319	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17111755	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17111837	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2163091	1.00[EUR][1000 genomes]
rs73587040	1.00[EUR][1000 genomes]
rs73587041	1.00[EUR][1000 genomes]
rs73587065	1.00[EUR][1000 genomes]
rs73587066	1.00[EUR][1000 genomes]
rs938885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers 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	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20916600-20922400	Weak transcription	Stomach Mucosa	stomach
2	chr14:20918800-20922400	Weak transcription	Gastric	stomach
3	chr14:20920400-20922400	Weak transcription	HSMMtube	muscle
4	chr14:20920600-20922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:20920600-20922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:20920600-20922400	Weak transcription	Esophagus	oesophagus
7	chr14:20920600-20922400	Weak transcription	Ovary	ovary
8	chr14:20920600-20922400	Weak transcription	Small Intestine	intestine
9	chr14:20920600-20922600	Weak transcription	Lung	lung
10	chr14:20920800-20922400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:20920800-20922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:20920800-20922400	Weak transcription	Brain Substantia Nigra	brain
13	chr14:20921000-20922400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:20921200-20922400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:20921400-20922400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:20921400-20922400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:20921400-20922400	Enhancers	Colonic Mucosa	Colon
18	chr14:20921400-20924000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:20921400-20924400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:20921600-20922400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:20921600-20922400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:20921600-20922400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr14:20921600-20922400	Enhancers	Placenta	Placenta
24	chr14:20921600-20922400	Enhancers	Pancreas	Pancrea
25	chr14:20921600-20922400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr14:20921600-20922600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:20921800-20922400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:20921800-20922400	Enhancers	Spleen	Spleen
29	chr14:20921800-20922400	Flanking Active TSS	Dnd41	blood
30	chr14:20921800-20922600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr14:20921800-20922600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr14:20921800-20922600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:20921800-20924200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr14:20921800-20924400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr14:20921800-20924400	Active TSS	A549	lung
36	chr14:20921800-20924400	Active TSS	K562	blood
37	chr14:20921800-20924600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr14:20921800-20924600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:20921800-20924600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:20921800-20924800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:20921800-20924800	Active TSS	HSMM	muscle
42	chr14:20922000-20922400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:20922000-20922400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr14:20922000-20922400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:20922000-20922400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr14:20922000-20922400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr14:20922000-20922400	Weak transcription	Fetal Heart	heart
48	chr14:20922000-20922400	Flanking Active TSS	Fetal Thymus	thymus
49	chr14:20922000-20922400	Active TSS	Stomach Smooth Muscle	stomach
50	chr14:20922000-20922400	Active TSS	HepG2	liver

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