Variant report

Variant	rs549672550
Chromosome Location	chr3:113543865-113543866
allele	A/C
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	RELA	chr3:113543835-113544396	GM19099	blood:	n/a	n/a
2	NFATC1	chr3:113543777-113544416	GM12878	blood:	n/a	n/a
3	NFIC	chr3:113543451-113544609	GM12878	blood:	n/a	n/a
4	ATF2	chr3:113543753-113544403	GM12878	blood:	n/a	n/a
5	PAX5	chr3:113543856-113544205	GM12878	blood:	n/a	chr3:113544022-113544041
6	RELA	chr3:113543810-113544407	GM12878	blood:	n/a	n/a
7	PAX5	chr3:113543700-113544357	GM12892	blood:	n/a	chr3:113544022-113544041
8	RELA	chr3:113543704-113544458	GM12891	blood:	n/a	n/a
9	PBX3	chr3:113543857-113544352	SK-N-SH	brain:	n/a	n/a
10	EP300	chr3:113543799-113544346	GM12878	blood:	n/a	chr3:113544088-113544097 chr3:113544064-113544074
11	PAX5	chr3:113543788-113544221	GM12878	blood:	n/a	chr3:113544022-113544041
12	FOXM1	chr3:113543735-113544445	GM12878	blood:	n/a	n/a
13	RUNX3	chr3:113543702-113544475	GM12878	blood:	n/a	n/a
14	PML	chr3:113543619-113544437	GM12878	blood:	n/a	n/a
15	PAX5	chr3:113543819-113544254	GM12878	blood:	n/a	chr3:113544022-113544041
16	BATF	chr3:113543809-113544367	GM12878	blood:	n/a	n/a
17	EBF1	chr3:113543853-113544308	GM12878	blood:	n/a	n/a
18	FOS	chr3:113543745-113544268	HUVEC	blood vessel:	n/a	chr3:113544091-113544103 chr3:113544088-113544095 chr3:113544088-113544096 chr3:113544089-113544100 chr3:113544086-113544097 chr3:113544088-113544097
19	RUNX3	chr3:113543742-113544359	GM12878	blood:	n/a	n/a
20	BATF	chr3:113543805-113544297	GM12878	blood:	n/a	n/a
21	IRF4	chr3:113543834-113544411	GM12878	blood:	n/a	n/a
22	CEBPB	chr3:113543558-113544452	GM12878	blood:	n/a	chr3:113543910-113543921
23	ATF2	chr3:113543719-113544392	GM12878	blood:	n/a	n/a
24	BCL3	chr3:113543767-113544250	GM12878	blood:	n/a	chr3:113544088-113544097 chr3:113544087-113544096
25	MTA3	chr3:113543782-113544403	GM12878	blood:	n/a	n/a
26	CTCF	chr3:113543840-113543990	Caco-2	colon:	n/a	n/a
27	CTCF	chr3:113543800-113543950	MCF-7	breast:	n/a	n/a
28	TBP	chr3:113543847-113544387	GM12878	blood:	n/a	n/a
29	EBF1	chr3:113543822-113544360	GM12878	blood:	n/a	n/a
30	PAX5	chr3:113543838-113544359	GM12878	blood:	n/a	chr3:113544022-113544041
31	SP1	chr3:113543789-113544306	GM12878	blood:	n/a	n/a
32	BCLAF1	chr3:113543758-113544443	GM12878	blood:	n/a	chr3:113544088-113544097 chr3:113544087-113544096
33	FOXM1	chr3:113543730-113544456	GM12878	blood:	n/a	n/a
34	KAP1	chr3:113543750-113544449	U2OS	brain:	n/a	n/a
35	MTA3	chr3:113543682-113544507	GM12878	blood:	n/a	n/a
36	IKZF1	chr3:113543818-113544360	GM12878	blood:	n/a	n/a
37	RELA	chr3:113543797-113544347	GM18951	blood:	n/a	n/a
38	BCL11A	chr3:113543819-113544325	GM12878	blood:	n/a	chr3:113544088-113544097 chr3:113544087-113544096
39	NFIC	chr3:113543766-113544382	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113542536..113544154-chr3:113546826..113548864,2	K562	blood:

Variant related genes	Relation type
GRAMD1C	TF binding region
ENSG00000178075	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv482804	chr3:113432431-113581672	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829678	chr3:113446177-113633053	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv877351	chr3:113450495-113637424	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1013746	chr3:113460162-113646657	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv432478	chr3:113492402-113614489	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv460822	chr3:113543081-113600970	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv591302	chr3:113543081-113600970	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113525400-113548600	Weak transcription	NHLF	lung
2	chr3:113528600-113544000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:113532000-113544000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:113539000-113549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:113543600-113544000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:113543600-113544200	Enhancers	A549	lung
7	chr3:113543600-113544400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:113543600-113544400	Enhancers	Primary B cells from cord blood	blood
9	chr3:113543600-113544400	Flanking Active TSS	GM12878-XiMat	blood
10	chr3:113543600-113545000	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:113543800-113544200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:113543800-113544200	Enhancers	Stomach Mucosa	stomach
13	chr3:113543800-113544200	Enhancers	HMEC	breast
14	chr3:113543800-113544400	Enhancers	HUVEC	blood vessel

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