Variant report

Variant	rs74133221
Chromosome Location	chr1:185606342-185606343
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr1:185605764-185606591	GM12878	blood:	n/a	n/a
2	RUNX3	chr1:185605813-185606560	GM12878	blood:	n/a	n/a
3	CEBPB	chr1:185605858-185606430	GM12878	blood:	n/a	n/a
4	MTA3	chr1:185605801-185606635	GM12878	blood:	n/a	n/a
5	SPI1	chr1:185605925-185606390	GM12891	blood:	n/a	n/a
6	STAT5A	chr1:185605817-185606541	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:185605910-185606453	GM12878	blood:	n/a	n/a
8	PAX5	chr1:185605871-185606500	GM12878	blood:	n/a	n/a
9	STAT3	chr1:185606072-185606396	MCF10A-Er-Src	breast:	n/a	n/a
10	SPI1	chr1:185605941-185606361	GM12878	blood:	n/a	n/a
11	STAT3	chr1:185606207-185606401	MCF10A-Er-Src	breast:	n/a	n/a
12	BATF	chr1:185605891-185606537	GM12878	blood:	n/a	n/a
13	RELA	chr1:185605955-185606467	GM10847	blood:	n/a	n/a
14	RCOR1	chr1:185605636-185606384	GM12878	blood:	n/a	n/a
15	YY1	chr1:185605929-185606362	GM12878	blood:	n/a	n/a
16	STAT3	chr1:185605999-185606448	MCF10A-Er-Src	breast:	n/a	n/a
17	EBF1	chr1:185606017-185606382	GM12878	blood:	n/a	n/a
18	PAX5	chr1:185605941-185606343	GM12878	blood:	n/a	n/a
19	PML	chr1:185605964-185606437	GM12878	blood:	n/a	n/a
20	RELA	chr1:185605868-185606503	GM19099	blood:	n/a	n/a
21	JUND	chr1:185605684-185606484	GM12878	blood:	n/a	n/a
22	POU2F2	chr1:185605735-185606429	GM12878	blood:	n/a	n/a
23	TBP	chr1:185605980-185606372	GM12878	blood:	n/a	n/a
24	RELA	chr1:185605728-185606500	GM18951	blood:	n/a	n/a
25	EP300	chr1:185605878-185606430	GM12878	blood:	n/a	n/a
26	EP300	chr1:185605890-185606376	GM12878	blood:	n/a	n/a
27	BATF	chr1:185605962-185606403	GM12878	blood:	n/a	n/a
28	ELF1	chr1:185605860-185606508	GM12878	blood:	n/a	n/a
29	POU2F2	chr1:185605774-185606357	GM12891	blood:	n/a	n/a
30	MYC	chr1:185606049-185606345	MCF10A-Er-Src	breast:	n/a	n/a
31	WRNIP1	chr1:185605952-185606454	GM12878	blood:	n/a	n/a
32	STAT5A	chr1:185605979-185606393	GM12878	blood:	n/a	n/a
33	STAT3	chr1:185605919-185606405	GM12878	blood:	n/a	n/a
34	BHLHE40	chr1:185605941-185606390	GM12878	blood:	n/a	n/a
35	RUNX3	chr1:185605844-185606543	GM12878	blood:	n/a	n/a
36	MEF2A	chr1:185605829-185606451	GM12878	blood:	n/a	n/a
37	POU2F2	chr1:185605729-185606466	GM12891	blood:	n/a	n/a
38	EP300	chr1:185605960-185606482	GM12878	blood:	n/a	n/a
39	FOXM1	chr1:185605860-185606485	GM12878	blood:	n/a	n/a
40	FOS	chr1:185605951-185606448	MCF10A-Er-Src	breast:	n/a	n/a
41	SPI1	chr1:185605865-185606443	GM12891	blood:	n/a	n/a
42	CUX1	chr1:185606146-185606508	GM12878	blood:	n/a	n/a
43	PML	chr1:185605833-185606492	GM12878	blood:	n/a	n/a
44	IRF4	chr1:185605920-185606466	GM12878	blood:	n/a	n/a
45	CREB1	chr1:185605752-185606452	GM12878	blood:	n/a	n/a
46	IKZF1	chr1:185605998-185606547	GM12878	blood:	n/a	n/a
47	NFATC1	chr1:185605897-185606454	GM12878	blood:	n/a	n/a
48	TBL1XR1	chr1:185605918-185606487	GM12878	blood:	n/a	n/a
49	ATF2	chr1:185605765-185606613	GM12878	blood:	n/a	n/a
50	RELA	chr1:185605816-185606475	GM19193	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000201596	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55646109	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55785813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55868516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55953486	1.00[AFR][1000 genomes]
rs57402553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58169917	1.00[AMR][1000 genomes]
rs58478654	1.00[AMR][1000 genomes]
rs60005347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60245030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133210	1.00[AMR][1000 genomes]
rs74133214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133237	1.00[AMR][1000 genomes]
rs74135007	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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3350575	chr1:185580344-185614213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185602800-185607400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:185605200-185606400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:185605200-185606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:185605200-185606800	Enhancers	NHEK	skin
5	chr1:185605200-185607000	Enhancers	GM12878-XiMat	blood
6	chr1:185605200-185607000	Enhancers	HMEC	breast
7	chr1:185606000-185606400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:185606000-185606400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:185606000-185607200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr1:185606200-185607200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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