Variant report

Variant	rs11046446
Chromosome Location	chr12:8782436-8782437
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	POU2F2	chr12:8781980-8782717	GM12891	blood:	n/a	chr12:8782505-8782520 chr12:8782501-8782522
2	STAT5A	chr12:8781945-8782691	GM12878	blood:	n/a	n/a
3	MXI1	chr12:8781945-8782549	GM12878	blood:	n/a	n/a
4	POU2F2	chr12:8781962-8782759	GM12878	blood:	n/a	chr12:8782505-8782520 chr12:8782501-8782522
5	IRF3	chr12:8782225-8782561	GM12878	blood:	n/a	n/a
6	ELK1	chr12:8782007-8782569	GM12878	blood:	n/a	n/a
7	IRF4	chr12:8781931-8782638	GM12878	blood:	n/a	n/a
8	IRF4	chr12:8782013-8782737	GM12878	blood:	n/a	n/a
9	EBF1	chr12:8781922-8782882	GM12878	blood:	n/a	chr12:8782232-8782243 chr12:8782232-8782245 chr12:8782233-8782243 chr12:8782234-8782243 chr12:8782243-8782254
10	BATF	chr12:8782057-8782725	GM12878	blood:	n/a	n/a
11	ELF1	chr12:8782019-8782630	GM12878	blood:	n/a	n/a
12	RUNX3	chr12:8781472-8783055	GM12878	blood:	n/a	n/a
13	EBF1	chr12:8781987-8782622	GM12878	blood:	n/a	chr12:8782232-8782243 chr12:8782232-8782245 chr12:8782233-8782243 chr12:8782234-8782243 chr12:8782243-8782254
14	PBX3	chr12:8782368-8782579	GM12878	blood:	n/a	n/a
15	MEF2C	chr12:8781882-8782719	GM12878	blood:	n/a	chr12:8782106-8782120 chr12:8782304-8782319 chr12:8782391-8782406 chr12:8782632-8782647 chr12:8782355-8782366 chr12:8782632-8782647 chr12:8782347-8782362
16	POU2F2	chr12:8782338-8782617	GM12878	blood:	n/a	chr12:8782505-8782520 chr12:8782501-8782522
17	RAD21	chr12:8782053-8782616	GM12878	blood:	n/a	n/a
18	RELA	chr12:8781971-8782668	GM19099	blood:	n/a	n/a
19	RUNX3	chr12:8781862-8782731	GM12878	blood:	n/a	n/a
20	RELA	chr12:8781972-8782643	GM10847	blood:	n/a	n/a
21	MEF2A	chr12:8781850-8782754	GM12878	blood:	n/a	chr12:8782106-8782120 chr12:8782391-8782406 chr12:8782632-8782647 chr12:8782355-8782366 chr12:8782632-8782647 chr12:8782347-8782362
22	MAX	chr12:8782003-8782586	GM12878	blood:	n/a	n/a
23	RFX5	chr12:8782098-8782485	GM12878	blood:	n/a	n/a
24	TBP	chr12:8781955-8782818	GM12878	blood:	n/a	n/a
25	TCF12	chr12:8781968-8782630	GM12878	blood:	n/a	n/a
26	EP300	chr12:8781990-8782657	GM12878	blood:	n/a	chr12:8782577-8782587
27	PAX5	chr12:8782009-8782809	GM12878	blood:	n/a	n/a
28	RELA	chr12:8782009-8782685	GM12892	blood:	n/a	n/a
29	EP300	chr12:8781910-8782860	GM12878	blood:	n/a	chr12:8782577-8782587
30	NFIC	chr12:8781757-8782889	GM12878	blood:	n/a	n/a
31	RELA	chr12:8782000-8782667	GM12891	blood:	n/a	n/a
32	FOXM1	chr12:8781829-8782816	GM12878	blood:	n/a	n/a
33	SMC3	chr12:8781924-8782696	GM12878	blood:	n/a	n/a
34	NFYB	chr12:8782100-8782764	GM12878	blood:	n/a	n/a
35	MEF2A	chr12:8781807-8782747	GM12878	blood:	n/a	chr12:8782106-8782120 chr12:8782391-8782406 chr12:8782632-8782647 chr12:8782355-8782366 chr12:8782632-8782647 chr12:8782347-8782362
36	ATF2	chr12:8781807-8782795	GM12878	blood:	n/a	n/a
37	ZNF384	chr12:8781912-8782527	GM12878	blood:	n/a	n/a
38	CEBPB	chr12:8781837-8783108	GM12878	blood:	n/a	n/a
39	RELA	chr12:8781948-8782683	GM18505	blood:	n/a	n/a
40	IKZF1	chr12:8781662-8782904	GM12878	blood:	n/a	n/a
41	PAX5	chr12:8782048-8782616	GM12891	blood:	n/a	n/a
42	YY1	chr12:8782045-8782444	GM12891	blood:	n/a	n/a
43	PML	chr12:8781845-8782815	GM12878	blood:	n/a	n/a
44	RAD21	chr12:8781959-8782647	GM12878	blood:	n/a	n/a
45	ATF2	chr12:8781825-8782826	GM12878	blood:	n/a	n/a
46	RELA	chr12:8781970-8782695	GM18951	blood:	n/a	n/a
47	STAT5A	chr12:8781903-8782770	GM12878	blood:	n/a	n/a
48	PBX3	chr12:8782356-8782598	GM12878	blood:	n/a	n/a
49	BCL3	chr12:8781981-8782702	GM12878	blood:	n/a	chr12:8782229-8782238
50	TBL1XR1	chr12:8781938-8782907	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255967	TF binding region

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

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

rs_ID	r²[population]
rs11046441	0.86[AFR][1000 genomes]
rs12298672	0.86[AFR][1000 genomes]
rs12308718	1.00[AMR][1000 genomes]
rs7979018	1.00[AMR][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	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8780600-8783200	Enhancers	GM12878-XiMat	blood
2	chr12:8780800-8782600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:8780800-8783000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:8781000-8782800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:8781000-8783400	Enhancers	HSMMtube	muscle
6	chr12:8781200-8782600	Enhancers	NHEK	skin
7	chr12:8781200-8783000	Enhancers	Osteobl	bone
8	chr12:8781200-8783200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:8781400-8782600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:8781400-8782600	Enhancers	Hela-S3	cervix
11	chr12:8781400-8783000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:8781400-8783000	Enhancers	HSMM	muscle
13	chr12:8781400-8783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:8781600-8782600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:8781600-8782800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:8781600-8783000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:8782000-8782600	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:8782000-8782600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links