Variant report

Variant	rs11612028
Chromosome Location	chr12:122387872-122387873
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	MAFK	chr12:122387825-122387940	K562	blood:	n/a	n/a
2	FOS	chr12:122387754-122388354	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFF	chr12:122387735-122388204	K562	blood:	n/a	n/a
4	POLR2A	chr12:122387785-122388440	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF12	chr12:122387720-122388540	SK-N-SH	brain:	n/a	n/a
6	MYC	chr12:122387816-122388332	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:122387797-122388439	MCF10A-Er-Src	breast:	n/a	chr12:122388408-122388419 chr12:122388411-122388421 chr12:122388412-122388420 chr12:122388411-122388421
8	FOSL2	chr12:122387801-122388301	A549	lung:	n/a	n/a
9	FOSL2	chr12:122387744-122388495	SK-N-SH	brain:	n/a	chr12:122388408-122388419 chr12:122388411-122388421 chr12:122388412-122388420 chr12:122388411-122388421
10	PBX3	chr12:122387767-122388509	SK-N-SH	brain:	n/a	n/a
11	BACH1	chr12:122387829-122387915	K562	blood:	n/a	n/a
12	MAFK	chr12:122387851-122387887	HepG2	liver:	n/a	n/a
13	FOS	chr12:122387755-122388428	MCF10A-Er-Src	breast:	n/a	chr12:122388408-122388419 chr12:122388411-122388421 chr12:122388412-122388420 chr12:122388411-122388421
14	USF1	chr12:122387830-122388258	A549	lung:	n/a	chr12:122388126-122388137
15	MAFK	chr12:122387817-122388217	HepG2	liver:	n/a	n/a
16	MYC	chr12:122387800-122388306	MCF10A-Er-Src	breast:	n/a	n/a
17	MAFK	chr12:122387691-122388381	IMR90	lung:	n/a	n/a
18	USF1	chr12:122387820-122388304	SK-N-SH	brain:	n/a	chr12:122388126-122388137

Variant related genes	Relation type
WDR66	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10840630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840631	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840632	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840633	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840637	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11043220	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11043223	1.00[YRI][hapmap]
rs11043225	1.00[ASN][1000 genomes]
rs11043233	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043242	0.96[CEU][hapmap]
rs11043243	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11043244	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043246	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043251	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043271	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043275	0.83[EUR][1000 genomes]
rs11043278	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043280	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043288	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1154514	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169070	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169071	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369331	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809676	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817066	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12822775	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12823194	1.00[ASN][1000 genomes]
rs12824593	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825161	1.00[ASN][1000 genomes]
rs12827452	0.84[AMR][1000 genomes]
rs12829688	0.83[EUR][1000 genomes]
rs1720033	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720037	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167067	1.00[ASN][1000 genomes]
rs34159444	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906460	1.00[ASN][1000 genomes]
rs35244551	0.84[AMR][1000 genomes]
rs3847694	0.96[CEU][hapmap]
rs66611928	0.84[AFR][1000 genomes]
rs66751701	1.00[ASN][1000 genomes]
rs7132055	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137218	0.96[CEU][hapmap]
rs7313252	0.96[CEU][hapmap]
rs73217776	1.00[ASN][1000 genomes]
rs9739381	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1799099	chr12:122382229-122398494	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122363000-122393400	Weak transcription	Brain Angular Gyrus	brain
2	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
3	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
5	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:122365800-122390200	Weak transcription	HUVEC	blood vessel
7	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
9	chr12:122372200-122396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122372800-122393600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:122374000-122402800	Weak transcription	HSMM	muscle
12	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:122375400-122401400	Weak transcription	Ovary	ovary
14	chr12:122375400-122402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:122375800-122393600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:122375800-122415800	Weak transcription	Liver	Liver
17	chr12:122376000-122388000	Weak transcription	NHLF	lung
18	chr12:122376000-122393400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:122376000-122401600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:122376000-122413000	Weak transcription	Aorta	Aorta
21	chr12:122377400-122406200	Weak transcription	Thymus	Thymus
22	chr12:122380600-122401600	Weak transcription	Pancreas	Pancrea
23	chr12:122380800-122405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:122381000-122396400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:122381000-122400000	Weak transcription	Spleen	Spleen
26	chr12:122381000-122405800	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:122382200-122393600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:122382200-122396200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:122382200-122402200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:122382600-122399600	Weak transcription	K562	blood
31	chr12:122383000-122391000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:122384200-122388000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:122384800-122388800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:122384800-122396400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:122385000-122391200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:122386200-122398600	Weak transcription	Fetal Stomach	stomach
37	chr12:122387200-122388200	Enhancers	HMEC	breast
38	chr12:122387200-122388600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:122387400-122388000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:122387400-122388000	Genic enhancers	Osteobl	bone
41	chr12:122387400-122388200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:122387400-122388400	Enhancers	A549	lung
43	chr12:122387600-122388000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122387600-122388400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:122387800-122388000	Enhancers	HSMMtube	muscle
46	chr12:122387800-122388000	Flanking Active TSS	NH-A	brain
47	chr12:122387800-122388000	Flanking Active TSS	NHEK	skin
48	chr12:122387800-122388200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:122387800-122388200	Enhancers	NHDF-Ad	bronchial
50	chr12:122387800-122388400	Enhancers	Muscle Satellite Cultured Cells	--

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