Variant report

Variant	rs2664145
Chromosome Location	chr19:51394543-51394544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr19:51393633-51394923	GM12878	blood:	n/a	n/a
2	SPI1	chr19:51394209-51394697	GM12891	blood:	n/a	n/a
3	SPI1	chr19:51394298-51394673	GM12878	blood:	n/a	n/a
4	STAT1	chr19:51394415-51394763	GM12878	blood:	n/a	n/a
5	SP1	chr19:51394172-51394604	GM12878	blood:	n/a	n/a
6	CHD1	chr19:51394164-51394709	GM12878	blood:	n/a	n/a
7	CUX1	chr19:51394256-51394654	GM12878	blood:	n/a	n/a
8	MEF2A	chr19:51393966-51394712	GM12878	blood:	n/a	chr19:51394252-51394263
9	PML	chr19:51393682-51394929	GM12878	blood:	n/a	n/a
10	BCL3	chr19:51393668-51395055	GM12878	blood:	n/a	n/a
11	TBP	chr19:51394123-51394557	GM12878	blood:	n/a	n/a
12	RUNX3	chr19:51393971-51394727	GM12878	blood:	n/a	n/a
13	NFIC	chr19:51393709-51394839	GM12878	blood:	n/a	n/a
14	RCOR1	chr19:51394204-51394696	GM12878	blood:	n/a	n/a
15	MAZ	chr19:51394208-51394702	GM12878	blood:	n/a	n/a
16	NFATC1	chr19:51393517-51394920	GM12878	blood:	n/a	n/a
17	FOXM1	chr19:51394120-51394722	GM12878	blood:	n/a	n/a
18	ATF2	chr19:51393963-51394702	GM12878	blood:	n/a	n/a
19	NFIC	chr19:51394040-51394737	GM12878	blood:	n/a	n/a
20	MTA3	chr19:51393941-51394921	GM12878	blood:	n/a	n/a
21	EBF1	chr19:51393989-51394742	GM12878	blood:	n/a	n/a
22	STAT3	chr19:51393973-51394724	GM12878	blood:	n/a	chr19:51394101-51394109
23	SMC3	chr19:51394223-51394570	GM12878	blood:	n/a	n/a
24	RUNX3	chr19:51393777-51395587	GM12878	blood:	n/a	n/a
25	BCL11A	chr19:51394131-51394581	GM12878	blood:	n/a	n/a
26	MEF2C	chr19:51394106-51394594	GM12878	blood:	n/a	chr19:51394252-51394263
27	MEF2A	chr19:51394073-51394652	GM12878	blood:	n/a	chr19:51394252-51394263
28	CHD2	chr19:51394182-51394833	GM12878	blood:	n/a	n/a
29	EP300	chr19:51393915-51394754	GM12878	blood:	n/a	n/a
30	RELA	chr19:51394024-51394819	GM18951	blood:	n/a	n/a
31	SPI1	chr19:51394203-51394658	GM12891	blood:	n/a	n/a
32	RELA	chr19:51393912-51394836	GM12891	blood:	n/a	n/a
33	ATF2	chr19:51393959-51394675	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr19:51394013-51394626	GM12878	blood:	n/a	n/a
35	FOXM1	chr19:51393926-51394838	GM12878	blood:	n/a	n/a
36	RELA	chr19:51393882-51394761	GM12878	blood:	n/a	n/a
37	SPI1	chr19:51393960-51394884	GM12878	blood:	n/a	n/a
38	EP300	chr19:51394203-51394660	GM12878	blood:	n/a	n/a
39	MXI1	chr19:51394087-51394720	GM12878	blood:	n/a	n/a
40	EP300	chr19:51394121-51394658	GM12878	blood:	n/a	n/a
41	STAT5A	chr19:51394172-51394923	GM12878	blood:	n/a	n/a
42	SPI1	chr19:51394312-51394568	GM12878	blood:	n/a	n/a
43	BHLHE40	chr19:51393684-51394631	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51385573..51388832-chr19:51392318..51396932,6	K562	blood:
2	chr19:51306537..51308894-chr19:51393464..51395843,2	K562	blood:
3	chr19:51304549..51308476-chr19:51394101..51398510,4	MCF-7	breast:
4	chr19:51393691..51396135-chr19:51398572..51401227,2	K562	blood:
5	chr19:51297375..51300335-chr19:51393395..51395432,2	MCF-7	breast:
6	chr19:51306385..51308222-chr19:51394305..51397653,3	K562	blood:
7	chr19:51293784..51296692-chr19:51392841..51394583,2	MCF-7	breast:

No data

Variant related genes	Relation type
KLKP1	TF binding region
ENSG00000167747	Chromatin interaction
ENSG00000197588	Chromatin interaction
ENSG00000220988	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1654515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1654516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1701936	0.91[AMR][1000 genomes]
rs1701937	0.91[AMR][1000 genomes]
rs1701940	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2135547	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659118	0.83[AMR][1000 genomes]
rs2739481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2739485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2739488	0.83[AMR][1000 genomes]
rs2739489	0.96[AFR][1000 genomes];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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51392600-51394800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:51393400-51396400	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:51393600-51394600	Enhancers	GM12878-XiMat	blood
4	chr19:51393600-51394600	Enhancers	HMEC	breast
5	chr19:51393600-51394600	Enhancers	Osteobl	bone
6	chr19:51393600-51394800	Enhancers	HSMM	muscle
7	chr19:51394000-51398000	Weak transcription	Colon Smooth Muscle	Colon

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