Variant report

Variant	rs12721060
Chromosome Location	chr19:45451534-45451535
allele	G/T
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	chr19:45451438-45451935	HepG2	liver:	n/a	n/a
2	EGR1	chr19:45451497-45451837	K562	blood:	n/a	chr19:45451697-45451719 chr19:45451701-45451716 chr19:45451640-45451650
3	HEY1	chr19:45451490-45452212	HepG2	liver:	n/a	n/a
4	HEY1	chr19:45451501-45451947	HepG2	liver:	n/a	n/a
5	MAX	chr19:45451527-45451786	K562	blood:	n/a	n/a
6	POLR2A	chr19:45451524-45452257	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:45451474-45452174	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:45451114-45452072	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45406430..45412448-chr19:45445993..45451546,6	K562	blood:

Variant related genes	Relation type
APOC2	TF binding region
ENSG00000130203	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34291375	1.00[YRI][hapmap]
rs36101520	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3347246	chr19:45423830-45452348	Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv912140	chr19:45434874-45451721	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45431000-45454600	Weak transcription	Esophagus	oesophagus
2	chr19:45439200-45456800	Weak transcription	Colonic Mucosa	Colon
3	chr19:45439400-45451800	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:45439400-45451800	Weak transcription	Brain Substantia Nigra	brain
5	chr19:45439400-45453800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:45439400-45457000	Weak transcription	Gastric	stomach
7	chr19:45442400-45453600	Weak transcription	Brain Angular Gyrus	brain
8	chr19:45444600-45452400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:45445600-45452800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:45445800-45452800	Weak transcription	Lung	lung
11	chr19:45445800-45453000	Weak transcription	Brain Anterior Caudate	brain
12	chr19:45445800-45454600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:45445800-45457600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:45445800-45457600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:45446000-45456800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:45447400-45452400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:45447400-45452400	Weak transcription	Ovary	ovary
18	chr19:45447400-45452600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:45447400-45453000	Weak transcription	Placenta	Placenta
20	chr19:45447400-45453000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:45447400-45453600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:45447400-45454000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:45447400-45454400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:45447400-45454400	Weak transcription	Right Ventricle	heart
25	chr19:45447400-45456800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:45447400-45456800	Weak transcription	Primary B cells from cord blood	blood
27	chr19:45447400-45457000	Weak transcription	HMEC	breast
28	chr19:45447400-45457200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:45447600-45451600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:45447600-45451600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:45447600-45451600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr19:45447600-45451600	Weak transcription	Fetal Muscle Leg	muscle
33	chr19:45447600-45452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:45447600-45452400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:45447600-45452800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:45447600-45453000	Weak transcription	Adipose Nuclei	Adipose
37	chr19:45447600-45453000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr19:45447600-45457600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:45447800-45451600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:45447800-45454800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:45447800-45456800	Weak transcription	GM12878-XiMat	blood
42	chr19:45448000-45451600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:45448200-45455000	Weak transcription	K562	blood
44	chr19:45448400-45452800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:45449000-45452600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:45449200-45451800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:45449200-45452800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:45449200-45456800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:45449400-45453200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr19:45449400-45454600	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links