Variant report

Variant	rs829121
Chromosome Location	chr12:51236931-51236932
allele	C/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	MAFK	chr12:51236907-51237235	IMR90	lung:	n/a	n/a
2	TAF1	chr12:51236458-51237005	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr12:51236585-51237033	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr12:51236527-51236948	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:51236554-51236977	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr12:51236880-51237236	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:51236556-51236952	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr12:51236408-51236994	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr12:51236539-51237033	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr12:51236361-51237037	H1-hESC	embryonic stem cell:	n/a	chr12:51236719-51236731 chr12:51236720-51236742 chr12:51236721-51236729 chr12:51236720-51236730 chr12:51236723-51236731
11	RAD21	chr12:51236594-51237025	H1-hESC	embryonic stem cell:	n/a	n/a
12	GTF2F1	chr12:51236726-51236986	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:51236671-51236976	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr12:51236448-51236981	H1-hESC	embryonic stem cell:	n/a	chr12:51236719-51236731 chr12:51236720-51236742 chr12:51236721-51236729 chr12:51236720-51236730 chr12:51236723-51236731
15	RAD21	chr12:51236478-51237057	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF7	chr12:51236573-51236966	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr12:51236538-51237047	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr12:51236352-51237027	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr12:51236351-51237087	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFK	chr12:51236907-51237201	HepG2	liver:	n/a	n/a
21	E2F6	chr12:51236271-51237132	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr12:51236526-51237108	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFK	chr12:51236704-51237201	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RN7SL519P	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10876079	1.00[EUR][1000 genomes]
rs1096028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11832566	1.00[EUR][1000 genomes]
rs11833478	1.00[EUR][1000 genomes]
rs12316220	1.00[EUR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1595597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs17125155	1.00[MEX][hapmap]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	1.00[EUR][1000 genomes]
rs2037453	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2464125	1.00[EUR][1000 genomes]
rs2468378	1.00[EUR][1000 genomes]
rs2554869	1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684895	1.00[EUR][1000 genomes]
rs2684896	1.00[EUR][1000 genomes]
rs2684897	1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[EUR][1000 genomes]
rs2684907	1.00[EUR][1000 genomes]
rs2684909	1.00[EUR][1000 genomes]
rs2700476	1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	1.00[EUR][1000 genomes]
rs2700483	1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731441	1.00[EUR][1000 genomes]
rs2731444	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	1.00[EUR][1000 genomes]
rs2731447	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4768908	1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs4768919	1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7973984	1.00[EUR][1000 genomes]
rs829116	0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829117	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829119	0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829136	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9943796	1.00[MEX][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv899078	chr12:51213433-51286750	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51236200-51237200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:51236200-51237400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:51236200-51237400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:51236400-51237000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:51236400-51237000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:51236400-51237000	Active TSS	Fetal Heart	heart
7	chr12:51236400-51237000	Flanking Active TSS	Pancreas	Pancrea
8	chr12:51236400-51237000	Flanking Active TSS	NHEK	skin
9	chr12:51236400-51237200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:51236400-51237200	Active TSS	Fetal Kidney	kidney
11	chr12:51236400-51237200	Active TSS	Fetal Lung	lung
12	chr12:51236400-51237400	Active TSS	Placenta	Placenta
13	chr12:51236400-51237600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:51236600-51237000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:51236600-51237000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:51236600-51237000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:51236600-51237000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:51236600-51237000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:51236600-51237000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:51236600-51237000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:51236600-51237000	Flanking Active TSS	Aorta	Aorta
22	chr12:51236600-51237000	Active TSS	Brain Cingulate Gyrus	brain
23	chr12:51236600-51237000	Active TSS	Brain Substantia Nigra	brain
24	chr12:51236600-51237000	Flanking Active TSS	Esophagus	oesophagus
25	chr12:51236600-51237000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr12:51236600-51237000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr12:51236600-51237000	Flanking Active TSS	Fetal Thymus	thymus
28	chr12:51236600-51237000	Active TSS	Placenta Amnion	Placenta Amnion
29	chr12:51236600-51237000	Active TSS	Right Ventricle	heart
30	chr12:51236600-51237000	Enhancers	HMEC	breast
31	chr12:51236600-51237200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:51236600-51237200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:51236600-51237200	Active TSS	Fetal Intestine Large	intestine
34	chr12:51236600-51237200	Active TSS	Fetal Intestine Small	intestine
35	chr12:51236600-51237200	Active TSS	Ovary	ovary
36	chr12:51236600-51237200	Active TSS	Right Atrium	heart
37	chr12:51236600-51237200	Active TSS	Stomach Smooth Muscle	stomach
38	chr12:51236600-51237200	Active TSS	HUVEC	blood vessel
39	chr12:51236600-51237200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
40	chr12:51236600-51237200	Active TSS	Osteobl	bone
41	chr12:51236600-51237400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:51236800-51237000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:51236800-51237000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:51236800-51237000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr12:51236800-51237000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr12:51236800-51237000	Enhancers	Brain Hippocampus Middle	brain
47	chr12:51236800-51237000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:51236800-51237000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr12:51236800-51237000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr12:51236800-51237000	Active TSS	Gastric	stomach

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