Variant report

Variant	rs59732071
Chromosome Location	chr14:105954949-105954950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105954916-105955498	HCT-116	colon:	n/a	n/a
2	POLR2A	chr14:105954883-105960284	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:105953327-105958531	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:105954948-105958403	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:105953388-105958117	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:105954766-105958183	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr14:105954949-105958196	Raji	blood:	n/a	n/a
8	POLR2A	chr14:105954776-105955693	K562	blood:	n/a	n/a
9	POLR2A	chr14:105954827-105958135	A549	lung:	n/a	n/a
10	MAX	chr14:105953873-105955186	MCF-7	breast:	n/a	n/a
11	POLR2A	chr14:105954737-105958092	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr14:105953117-105960278	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr14:105953920-105954978	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:105954905-105955153	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:105954873-105955037	A549	lung:	n/a	n/a
16	POLR2A	chr14:105953245-105955017	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr14:105953342-105958764	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:105953119-105958678	Hela-S3	cervix:	n/a	n/a
19	SP1	chr14:105954809-105955160	H1-hESC	embryonic stem cell:	n/a	chr14:105954864-105954873 chr14:105954863-105954873 chr14:105954862-105954874 chr14:105954862-105954874
20	NR2F2	chr14:105953643-105958688	MCF-7	breast:	n/a	n/a
21	NR2F2	chr14:105953828-105955014	MCF-7	breast:	n/a	n/a
22	FOXA2	chr14:105954705-105955174	A549	lung:	n/a	n/a
23	POLR2A	chr14:105954833-105955033	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:105954840-105955107	A549	lung:	n/a	n/a
25	POLR2A	chr14:105954879-105955134	MCF-7	breast:	n/a	n/a
26	POLR2A	chr14:105953151-105960167	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105862822..105868581-chr14:105954164..105958464,7	MCF-7	breast:
2	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
3	chr14:105765913..105767563-chr14:105954548..105956473,2	MCF-7	breast:
4	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
5	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:
6	chr14:105486944..105489300-chr14:105953502..105956286,2	MCF-7	breast:
7	chr14:105936218..105937759-chr14:105953901..105956175,2	K562	blood:
8	chr14:105853760..105856019-chr14:105954695..105956610,2	MCF-7	breast:
9	chr14:105886174..105888891-chr14:105953847..105956104,2	MCF-7	breast:

No data

Variant related genes	Relation type
C14orf80	TF binding region
ENSG00000170779	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000226174	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10138891	0.82[AFR][1000 genomes]
rs11160845	0.81[AFR][1000 genomes]
rs12879031	0.80[EUR][1000 genomes]
rs4983422	0.82[AFR][1000 genomes]
rs4983423	0.82[AFR][1000 genomes]
rs7140395	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105946800-105955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105947000-105955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:105952000-105955200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:105952200-105955400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr14:105952200-105956800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr14:105952400-105955000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr14:105952600-105955000	Weak transcription	K562	blood
8	chr14:105952600-105955200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:105952600-105956800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr14:105952600-105957200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr14:105953000-105955600	Active TSS	Rectal Smooth Muscle	rectum
12	chr14:105953200-105955000	Active TSS	A549	lung
13	chr14:105953400-105956200	Enhancers	Liver	Liver
14	chr14:105953600-105955200	Active TSS	HSMM	muscle
15	chr14:105953600-105955200	Active TSS	NHDF-Ad	bronchial
16	chr14:105953600-105955600	Enhancers	Dnd41	blood
17	chr14:105953800-105955600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:105953800-105956200	Weak transcription	Ovary	ovary
19	chr14:105954000-105955000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:105954000-105955000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:105954000-105955000	Bivalent/Poised TSS	Fetal Stomach	stomach
22	chr14:105954000-105955200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr14:105954000-105956000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr14:105954000-105956400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr14:105954200-105955000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
26	chr14:105954200-105955000	Flanking Active TSS	Esophagus	oesophagus
27	chr14:105954200-105955000	Bivalent Enhancer	Fetal Lung	lung
28	chr14:105954200-105955600	Weak transcription	HMEC	breast
29	chr14:105954200-105956000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:105954200-105956000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:105954200-105956000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr14:105954200-105956000	Flanking Active TSS	HepG2	liver
33	chr14:105954200-105956200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr14:105954200-105956400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr14:105954200-105956400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr14:105954200-105956400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr14:105954400-105955000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:105954400-105955000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:105954400-105955000	Bivalent Enhancer	Brain Anterior Caudate	brain
40	chr14:105954400-105955000	Enhancers	HSMMtube	muscle
41	chr14:105954400-105955200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
42	chr14:105954400-105955200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr14:105954400-105955400	Active TSS	Colon Smooth Muscle	Colon
44	chr14:105954400-105955400	Genic enhancers	Spleen	Spleen
45	chr14:105954400-105955800	Weak transcription	Psoas Muscle	Psoas
46	chr14:105954400-105956000	Enhancers	Primary hematopoietic stem cells	blood
47	chr14:105954400-105956200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr14:105954400-105957000	Flanking Active TSS	Colonic Mucosa	Colon
49	chr14:105954600-105955000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr14:105954600-105955000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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