Variant report

Variant	rs72715591
Chromosome Location	chr14:55528116-55528117
allele	C/G
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	POLR2A	chr14:55528058-55528136	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr14:55528109-55528460	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:55527228-55528231	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:55527260-55528162	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55524853..55528129-chr14:55532320..55535008,3	MCF-7	breast:
2	chr14:55526794..55528357-chr14:55606390..55608686,2	MCF-7	breast:

Variant related genes	Relation type
MAPK1IP1L	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17128147	1.00[EUR][1000 genomes]
rs35954941	0.86[EUR][1000 genomes]
rs58481989	1.00[EUR][1000 genomes]
rs72715588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715590	1.00[EUR][1000 genomes]
rs72715592	1.00[EUR][1000 genomes]
rs72716642	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72716643	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72716648	1.00[EUR][1000 genomes]
rs72716652	1.00[EUR][1000 genomes]
rs72716654	1.00[EUR][1000 genomes]
rs72716661	1.00[EUR][1000 genomes]
rs72716663	0.86[EUR][1000 genomes]
rs72716665	0.86[EUR][1000 genomes]
rs72716666	0.86[EUR][1000 genomes]
rs72716668	0.86[EUR][1000 genomes]
rs72716676	0.86[EUR][1000 genomes]
rs72716677	0.86[EUR][1000 genomes]
rs72716678	0.86[EUR][1000 genomes]
rs72716681	0.86[EUR][1000 genomes]
rs72716688	0.86[EUR][1000 genomes]
rs72716690	0.86[EUR][1000 genomes]
rs72716692	0.86[EUR][1000 genomes]
rs72716698	0.86[EUR][1000 genomes]
rs72718806	0.86[EUR][1000 genomes]
rs72718810	0.86[EUR][1000 genomes]
rs72718813	0.86[EUR][1000 genomes]
rs72718815	0.86[EUR][1000 genomes]
rs72718818	0.86[EUR][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 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	chr14:55519200-55529400	Weak transcription	Spleen	Spleen
2	chr14:55519400-55529200	Weak transcription	Pancreas	Pancrea
3	chr14:55519600-55528600	Weak transcription	Colonic Mucosa	Colon
4	chr14:55519600-55529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:55519600-55529400	Weak transcription	Esophagus	oesophagus
6	chr14:55519600-55534400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:55519600-55538000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:55520000-55528600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:55520000-55529400	Weak transcription	Aorta	Aorta
10	chr14:55520000-55529400	Weak transcription	Fetal Brain Female	brain
11	chr14:55520200-55528400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:55520200-55529000	Weak transcription	Brain Anterior Caudate	brain
13	chr14:55520200-55529000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:55520200-55529200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:55520200-55529600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:55520200-55538400	Weak transcription	Fetal Kidney	kidney
17	chr14:55520400-55529000	Weak transcription	Brain Germinal Matrix	brain
18	chr14:55520400-55538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:55520600-55528400	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:55520600-55528600	Weak transcription	Stomach Mucosa	stomach
21	chr14:55520600-55528600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:55520600-55529000	Weak transcription	Fetal Lung	lung
23	chr14:55520600-55529000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:55520600-55529200	Weak transcription	Brain Substantia Nigra	brain
25	chr14:55520600-55533600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:55520600-55535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:55520600-55538000	Weak transcription	Psoas Muscle	Psoas
28	chr14:55520600-55538600	Weak transcription	Fetal Brain Male	brain
29	chr14:55520800-55529400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:55520800-55529400	Weak transcription	Brain Angular Gyrus	brain
31	chr14:55520800-55534800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:55520800-55535200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:55521000-55529600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:55521200-55528400	Weak transcription	Liver	Liver
35	chr14:55521200-55529400	Weak transcription	Right Ventricle	heart
36	chr14:55521600-55529400	Weak transcription	Primary B cells from cord blood	blood
37	chr14:55521600-55529400	Weak transcription	HSMMtube	muscle
38	chr14:55521600-55535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:55521600-55535400	Strong transcription	NHEK	skin
40	chr14:55522000-55535600	Strong transcription	Fetal Thymus	thymus
41	chr14:55522400-55529000	Weak transcription	K562	blood
42	chr14:55522400-55529200	Weak transcription	Primary T cells from cord blood	blood
43	chr14:55522600-55528400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:55522600-55529600	Weak transcription	Right Atrium	heart
45	chr14:55522600-55532200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:55522600-55536600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:55523000-55529000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:55523200-55528800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:55523200-55528800	Weak transcription	Fetal Heart	heart
50	chr14:55523200-55529200	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links