Variant report

Variant	rs191188844
Chromosome Location	chr3:113544339-113544340
allele	A/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	CTCF	chr3:113544200-113544350	HUVEC	blood vessel:	n/a	n/a
2	RELA	chr3:113543835-113544396	GM19099	blood:	n/a	n/a
3	NFATC1	chr3:113543777-113544416	GM12878	blood:	n/a	n/a
4	CTCF	chr3:113544220-113544370	GM12872	blood:	n/a	n/a
5	CTCF	chr3:113544200-113544350	HVMF	connective:	n/a	n/a
6	NFIC	chr3:113543451-113544609	GM12878	blood:	n/a	n/a
7	CTCF	chr3:113544260-113544410	HFF	foreskin:	n/a	n/a
8	ATF2	chr3:113543753-113544403	GM12878	blood:	n/a	n/a
9	RELA	chr3:113543810-113544407	GM12878	blood:	n/a	n/a
10	CTCF	chr3:113544200-113544350	HPAF	blood vessel:	n/a	n/a
11	PAX5	chr3:113543700-113544357	GM12892	blood:	n/a	chr3:113544022-113544041
12	RAD21	chr3:113544061-113544410	H1-hESC	embryonic stem cell:	n/a	n/a
13	RELA	chr3:113543704-113544458	GM12891	blood:	n/a	n/a
14	CTCF	chr3:113544200-113544350	GM12878	blood:	n/a	n/a
15	CTCF	chr3:113544220-113544370	GM12868	blood:	n/a	n/a
16	PBX3	chr3:113543857-113544352	SK-N-SH	brain:	n/a	n/a
17	EP300	chr3:113543799-113544346	GM12878	blood:	n/a	chr3:113544088-113544097 chr3:113544064-113544074
18	CTCF	chr3:113544200-113544350	NB4	blood:	n/a	n/a
19	KAP1	chr3:113544090-113544389	HEK293	kidney:	n/a	n/a
20	FOXM1	chr3:113543735-113544445	GM12878	blood:	n/a	n/a
21	CTCF	chr3:113544200-113544350	NHEK	skin:	n/a	n/a
22	CTCF	chr3:113544200-113544350	HRPEpiC	eye:	n/a	n/a
23	RUNX3	chr3:113543702-113544475	GM12878	blood:	n/a	n/a
24	PML	chr3:113543619-113544437	GM12878	blood:	n/a	n/a
25	CTCF	chr3:113544200-113544350	GM12874	blood:	n/a	n/a
26	CTCF	chr3:113544200-113544350	GM12801	blood:	n/a	n/a
27	STAT5A	chr3:113543903-113544371	GM12878	blood:	n/a	chr3:113544087-113544096 chr3:113544088-113544097
28	BATF	chr3:113543809-113544367	GM12878	blood:	n/a	n/a
29	CTCF	chr3:113544200-113544350	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr3:113544220-113544370	HRE	kidney:	n/a	n/a
31	CTCF	chr3:113544140-113544349	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr3:113544173-113544355	HUVEC	blood vessel:	n/a	n/a
33	RUNX3	chr3:113543742-113544359	GM12878	blood:	n/a	n/a
34	CTCF	chr3:113544121-113544362	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:113544200-113544350	HCFaa	heart:	n/a	n/a
36	IRF4	chr3:113543834-113544411	GM12878	blood:	n/a	n/a
37	IRF4	chr3:113543876-113544361	GM12878	blood:	n/a	n/a
38	CEBPB	chr3:113543558-113544452	GM12878	blood:	n/a	chr3:113543910-113543921
39	RCOR1	chr3:113543926-113544349	K562	blood:	n/a	n/a
40	CTCF	chr3:113544200-113544350	RPTEC	kidney:	n/a	n/a
41	CTCF	chr3:113544200-113544350	BJ	skin:	n/a	n/a
42	CTCF	chr3:113544200-113544350	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr3:113544200-113544350	HBMEC	blood vessel:	n/a	n/a
44	ATF2	chr3:113543719-113544392	GM12878	blood:	n/a	n/a
45	MTA3	chr3:113543782-113544403	GM12878	blood:	n/a	n/a
46	TBP	chr3:113543847-113544387	GM12878	blood:	n/a	n/a
47	EBF1	chr3:113543822-113544360	GM12878	blood:	n/a	n/a
48	CTCF	chr3:113544220-113544370	GM06990	blood:	n/a	n/a
49	PAX5	chr3:113543838-113544359	GM12878	blood:	n/a	chr3:113544022-113544041
50	BCLAF1	chr3:113543758-113544443	GM12878	blood:	n/a	chr3:113544088-113544097 chr3:113544087-113544096

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113543876..113544661-chr3:113557420..113558376,3	MCF-7	breast:

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	chr3:113539000-113549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:113543600-113544400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:113543600-113544400	Enhancers	Primary B cells from cord blood	blood
5	chr3:113543600-113544400	Flanking Active TSS	GM12878-XiMat	blood
6	chr3:113543600-113545000	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:113543800-113544400	Enhancers	HUVEC	blood vessel
8	chr3:113544000-113544400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:113544000-113544400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:113544000-113548600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:113544200-113548600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:113544200-113548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:113544200-113548600	Weak transcription	HMEC	breast
14	chr3:113544200-113549400	Weak transcription	Stomach Mucosa	stomach

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