Variant report

Variant	rs117258231
Chromosome Location	chr12:103508386-103508387
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	NFATC1	chr12:103508048-103508559	GM12878	blood:	n/a	n/a
2	BATF	chr12:103508062-103508483	GM12878	blood:	n/a	n/a
3	CHD2	chr12:103507988-103508893	GM12878	blood:	n/a	n/a
4	BCLAF1	chr12:103508021-103508800	GM12878	blood:	n/a	chr12:103508657-103508666 chr12:103508656-103508665
5	TCF12	chr12:103508023-103508478	GM12878	blood:	n/a	n/a
6	MEF2A	chr12:103508173-103508833	GM12878	blood:	n/a	chr12:103508657-103508665
7	SMC3	chr12:103508068-103509028	GM12878	blood:	n/a	n/a
8	STAT5A	chr12:103508019-103508828	GM12878	blood:	n/a	n/a
9	NFE2	chr12:103508376-103508678	GM12878	blood:	n/a	chr12:103508657-103508667
10	WRNIP1	chr12:103508033-103508830	GM12878	blood:	n/a	n/a
11	SP1	chr12:103508036-103508909	GM12878	blood:	n/a	n/a
12	YY1	chr12:103508065-103508401	GM12891	blood:	n/a	n/a
13	RAD21	chr12:103508106-103508534	GM12878	blood:	n/a	n/a
14	IRF4	chr12:103507898-103508898	GM12878	blood:	n/a	n/a
15	POU2F2	chr12:103508166-103508488	GM12891	blood:	n/a	n/a
16	ATF2	chr12:103507916-103508908	GM12878	blood:	n/a	n/a
17	RAD21	chr12:103508130-103508477	GM12878	blood:	n/a	n/a
18	REST	chr12:103508174-103508449	Hela-S3	cervix:	n/a	n/a
19	ZNF143	chr12:103508061-103508808	GM12878	blood:	n/a	n/a
20	CEBPB	chr12:103508123-103508485	GM12878	blood:	n/a	n/a
21	RCOR1	chr12:103507834-103508934	GM12878	blood:	n/a	n/a
22	SPI1	chr12:103508197-103508511	GM12878	blood:	n/a	n/a
23	IRF4	chr12:103507910-103508863	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:103508026-103508941	GM12878	blood:	n/a	chr12:103508657-103508666 chr12:103508656-103508665
25	MEF2A	chr12:103508096-103508972	GM12878	blood:	n/a	chr12:103508946-103508954 chr12:103508657-103508665
26	PAX5	chr12:103507998-103508490	GM12878	blood:	n/a	n/a
27	STAT1	chr12:103508031-103508743	GM12878	blood:	n/a	n/a
28	EBF1	chr12:103507350-103508995	GM12878	blood:	n/a	chr12:103508293-103508304
29	EBF1	chr12:103507968-103508911	GM12878	blood:	n/a	chr12:103508293-103508304
30	CUX1	chr12:103507778-103508861	GM12878	blood:	n/a	n/a
31	NFATC1	chr12:103507939-103508834	GM12878	blood:	n/a	n/a
32	NFIC	chr12:103507913-103509164	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:103508064-103508540	GM12892	blood:	n/a	n/a
34	EBF1	chr12:103507946-103508855	GM12878	blood:	n/a	chr12:103508293-103508304
35	BCL11A	chr12:103508132-103508462	GM12878	blood:	n/a	n/a
36	PML	chr12:103508184-103508407	GM12878	blood:	n/a	n/a
37	SPI1	chr12:103508067-103508560	GM12878	blood:	n/a	n/a
38	MEF2C	chr12:103508010-103509035	GM12878	blood:	n/a	chr12:103509019-103509027 chr12:103508946-103508954 chr12:103508657-103508665
39	SP1	chr12:103508073-103508566	GM12878	blood:	n/a	n/a
40	SRF	chr12:103508244-103508399	GM12878	blood:	n/a	n/a
41	CEBPB	chr12:103507916-103508641	GM12878	blood:	n/a	n/a
42	FOXM1	chr12:103507961-103508700	GM12878	blood:	n/a	n/a
43	ATF2	chr12:103507953-103508895	GM12878	blood:	n/a	n/a
44	SPI1	chr12:103507708-103508909	GM12878	blood:	n/a	n/a
45	PAX5	chr12:103507995-103508853	GM12878	blood:	n/a	n/a
46	BCLAF1	chr12:103507971-103508884	GM12878	blood:	n/a	chr12:103508657-103508666 chr12:103508656-103508665
47	BCL3	chr12:103508049-103508785	GM12878	blood:	n/a	chr12:103508657-103508666 chr12:103508656-103508665
48	SPI1	chr12:103508021-103508629	GM12891	blood:	n/a	n/a
49	SPI1	chr12:103508057-103508590	GM12891	blood:	n/a	n/a
50	PML	chr12:103507960-103509016	GM12878	blood:	n/a	chr12:103508655-103508664

Variant related genes	Relation type
RNU7-184P	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832501	chr12:103463927-103648825	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv1824379	chr12:103501562-103549931	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103508000-103508800	Flanking Active TSS	GM12878-XiMat	blood
2	chr12:103508000-103509000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:103508000-103509200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:103508000-103509200	Enhancers	Fetal Intestine Large	intestine
5	chr12:103508000-103509400	Enhancers	Fetal Intestine Small	intestine
6	chr12:103508200-103509400	Enhancers	Duodenum Mucosa	Duodenum

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