Variant report

Variant	rs10147413
Chromosome Location	chr14:45383899-45383900
allele	A/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:6)
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	TAL1	chr14:45383891-45384393	K562	blood:	n/a	n/a
2	GATA1	chr14:45383456-45384511	PBDE	blood:	n/a	chr14:45383823-45383834

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45383078..45384611-chr14:45736865..45739302,2	MCF-7	breast:
2	chr14:45365141..45366698-chr14:45382988..45384781,2	MCF-7	breast:
3	chr14:45382331..45385097-chr14:45486659..45488651,2	MCF-7	breast:
4	chr14:45373435..45375914-chr14:45381122..45384110,3	MCF-7	breast:
5	chr14:45382903..45383965-chr14:45737675..45738717,4	MCF-7	breast:
6	chr14:45383020..45384802-chr14:45602016..45604484,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258949	TF binding region
ENSG00000179476	Chromatin interaction
ENSG00000258633	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10129456	0.83[YRI][hapmap]
rs10132492	0.83[YRI][hapmap]
rs10132637	1.00[MEX][hapmap]
rs10132762	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[YRI][hapmap]
rs10134083	1.00[MEX][hapmap]
rs10143572	0.83[YRI][hapmap]
rs10143868	0.84[AFR][1000 genomes]
rs10148765	1.00[MEX][hapmap]
rs10149748	0.83[YRI][hapmap]
rs17115678	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17115721	0.83[YRI][hapmap]
rs17115737	0.82[YRI][hapmap]
rs17115745	1.00[MEX][hapmap]
rs28408667	0.83[YRI][hapmap]
rs28469277	1.00[MEX][hapmap]
rs28802144	1.00[MEX][hapmap];0.83[YRI][hapmap]
rs7143763	1.00[MEX][hapmap]
rs7153359	1.00[MEX][hapmap]
rs7494426	1.00[YRI][hapmap]
rs961194	1.00[MEX][hapmap];0.83[YRI][hapmap]

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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45381800-45384000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:45381800-45384000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:45381800-45384000	Weak transcription	NHDF-Ad	bronchial
6	chr14:45381800-45384200	Weak transcription	Gastric	stomach
7	chr14:45382000-45384000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:45382000-45384000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:45382000-45384000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:45382000-45384000	Weak transcription	Right Atrium	heart
11	chr14:45382000-45384200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:45382000-45400600	Weak transcription	Left Ventricle	heart
13	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
14	chr14:45382800-45384800	Enhancers	Fetal Heart	heart
15	chr14:45383000-45384400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:45383000-45397600	Weak transcription	Liver	Liver
17	chr14:45383000-45405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:45383400-45384000	Enhancers	HepG2	liver
19	chr14:45383600-45384000	Enhancers	Adipose Nuclei	Adipose
20	chr14:45383800-45384000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:45383800-45384200	Bivalent Enhancer	Brain Substantia Nigra	brain
22	chr14:45383800-45384200	Enhancers	K562	blood
23	chr14:45383800-45384400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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