Variant report

Variant	rs4760686
Chromosome Location	chr12:48547620-48547621
allele	A/C
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	chr12:48546821-48547867	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:48547069-48547907	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48545842..48549323-chr12:48549562..48552963,3	MCF-7	breast:

Variant related genes	Relation type
ASB8	TF binding region
ENSG00000177981	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17122498	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17122571	0.96[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap]
rs2634695	1.00[AMR][1000 genomes]
rs4760693	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4760686	PRKAG1	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48516400-48547800	Strong transcription	Fetal Stomach	stomach
2	chr12:48531000-48547800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr12:48531200-48547800	Strong transcription	Primary T cells from cord blood	blood
4	chr12:48531200-48547800	Strong transcription	Brain Inferior Temporal Lobe	brain
5	chr12:48531200-48547800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr12:48531200-48548000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:48531400-48548000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:48531600-48547800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:48532200-48548400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:48533000-48547800	Strong transcription	Liver	Liver
11	chr12:48533200-48547800	Strong transcription	Fetal Thymus	thymus
12	chr12:48533600-48548400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:48533800-48547800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:48534200-48548000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:48535000-48547800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:48536400-48548200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:48536600-48547800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:48536800-48550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:48537800-48550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:48538400-48550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:48538600-48548600	Strong transcription	Thymus	Thymus
22	chr12:48539200-48547800	Strong transcription	Rectal Smooth Muscle	rectum
23	chr12:48540400-48550000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:48540400-48550200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:48542200-48550400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:48542600-48547800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr12:48542600-48547800	Strong transcription	Fetal Lung	lung
28	chr12:48543400-48548000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:48543800-48550400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:48544000-48550000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:48544000-48550200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:48544000-48550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:48544000-48550400	Weak transcription	Esophagus	oesophagus
34	chr12:48544000-48550600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:48544200-48550400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:48544400-48550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:48544400-48550400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:48544600-48550400	Weak transcription	Stomach Mucosa	stomach
39	chr12:48544800-48550200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:48545000-48550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:48545200-48550000	Weak transcription	HUVEC	blood vessel
42	chr12:48545200-48550200	Weak transcription	Small Intestine	intestine
43	chr12:48545400-48550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:48545400-48550200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:48545400-48550200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:48545400-48550200	Weak transcription	Fetal Heart	heart
47	chr12:48545600-48549600	Weak transcription	Pancreas	Pancrea
48	chr12:48545600-48550000	Weak transcription	Fetal Brain Male	brain
49	chr12:48545600-48550200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:48545600-48550200	Weak transcription	NHEK	skin

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