Variant report

Variant	rs73278053
Chromosome Location	chr14:65788490-65788491
allele	A/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	NFIC	chr14:65787087-65789016	GM12878	blood:	n/a	n/a
2	BATF	chr14:65788031-65788666	GM12878	blood:	n/a	n/a
3	MEF2A	chr14:65787887-65788928	GM12878	blood:	n/a	n/a
4	CEBPB	chr14:65787234-65788793	GM12878	blood:	n/a	n/a
5	EBF1	chr14:65787448-65788678	GM12878	blood:	n/a	chr14:65787767-65787776 chr14:65787765-65787778 chr14:65787766-65787777 chr14:65787767-65787776 chr14:65787767-65787777
6	BCLAF1	chr14:65787607-65788818	GM12878	blood:	n/a	chr14:65787669-65787678 chr14:65787613-65787622
7	IKZF1	chr14:65787522-65788730	GM12878	blood:	n/a	n/a
8	CEBPB	chr14:65788336-65788591	Hela-S3	cervix:	n/a	n/a
9	EBF1	chr14:65788408-65788901	GM12878	blood:	n/a	n/a
10	SPI1	chr14:65787662-65788632	GM12878	blood:	n/a	chr14:65787947-65787960 chr14:65787946-65787959 chr14:65787728-65787741
11	POLR2A	chr14:65787451-65788954	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:65787559-65788856	GM12891	blood:	n/a	n/a
13	PML	chr14:65787392-65788897	GM12878	blood:	n/a	chr14:65787614-65787623
14	NFATC1	chr14:65787575-65788752	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:65787869-65788526	GM12891	blood:	n/a	n/a
16	FOXM1	chr14:65787538-65788780	GM12878	blood:	n/a	n/a
17	MTA3	chr14:65787500-65788998	GM12878	blood:	n/a	n/a
18	EP300	chr14:65787717-65788672	GM12878	blood:	n/a	chr14:65788215-65788229 chr14:65787944-65787958 chr14:65787948-65787957
19	SP1	chr14:65787902-65788655	GM12878	blood:	n/a	n/a
20	IRF4	chr14:65787569-65788781	GM12878	blood:	n/a	n/a
21	FOS	chr14:65788275-65788517	MCF10A-Er-Src	breast:	n/a	n/a
22	TFAP2C	chr14:65788005-65788509	Hela-S3	cervix:	n/a	chr14:65788331-65788346
23	BCL3	chr14:65787994-65788699	GM12878	blood:	n/a	n/a
24	BCLAF1	chr14:65787773-65788802	GM12878	blood:	n/a	n/a
25	RUNX3	chr14:65787498-65788935	GM12878	blood:	n/a	n/a
26	BATF	chr14:65787943-65788824	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:65787626-65788532	GM12891	blood:	n/a	n/a
28	POLR2A	chr14:65787627-65788528	GM12891	blood:	n/a	n/a
29	POLR2A	chr14:65787398-65789209	GM12892	blood:	n/a	n/a
30	RUNX3	chr14:65787669-65788929	GM12878	blood:	n/a	n/a
31	YY1	chr14:65788346-65788678	K562	blood:	n/a	n/a
32	POLR2A	chr14:65787410-65788545	GM12892	blood:	n/a	n/a
33	FOXM1	chr14:65787683-65788933	GM12878	blood:	n/a	n/a
34	RELA	chr14:65787584-65788795	GM19099	blood:	n/a	n/a
35	NFIC	chr14:65787869-65788778	GM12878	blood:	n/a	n/a
36	MEF2A	chr14:65787829-65788892	GM12878	blood:	n/a	n/a
37	NFE2	chr14:65788255-65788536	GM12878	blood:	n/a	n/a
38	NFATC1	chr14:65787414-65788827	GM12878	blood:	n/a	n/a
39	POLR2A	chr14:65787597-65788542	GM12892	blood:	n/a	n/a
40	MEF2C	chr14:65787868-65788770	GM12878	blood:	n/a	n/a
41	ZKSCAN1	chr14:65788376-65788576	Hela-S3	cervix:	n/a	n/a
42	BCL11A	chr14:65787939-65788747	GM12878	blood:	n/a	n/a
43	MTA3	chr14:65787291-65788962	GM12878	blood:	n/a	n/a
44	ATF2	chr14:65787868-65788766	GM12878	blood:	n/a	n/a
45	ATF2	chr14:65787548-65788919	GM12878	blood:	n/a	n/a
46	STAT5A	chr14:65787811-65788783	GM12878	blood:	n/a	n/a
47	PAX5	chr14:65787928-65788499	GM12878	blood:	n/a	chr14:65788184-65788193
48	YY1	chr14:65788231-65788735	GM12892	blood:	n/a	n/a
49	YY1	chr14:65788181-65788803	GM12878	blood:	n/a	n/a
50	STAT5A	chr14:65787510-65788731	GM12878	blood:	n/a	chr14:65787613-65787622

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65787866..65790196-chr14:65801828..65804356,2	MCF-7	breast:
2	chr14:65787676..65790459-chr14:65877446..65879191,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258760	TF binding region
ENSG00000033170	Chromatin interaction
ENSG00000266740	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10131385	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10132229	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10135194	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10138151	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144503	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145534	0.85[ASN][1000 genomes]
rs10147958	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10150168	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436299	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28557275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28595734	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010759	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9635250	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65785600-65788800	Enhancers	Primary B cells from cord blood	blood
2	chr14:65785600-65791000	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:65786200-65788800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:65786200-65789000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:65786200-65789000	Enhancers	NHEK	skin
6	chr14:65786400-65789000	Enhancers	Hela-S3	cervix
7	chr14:65787400-65788600	Enhancers	Duodenum Mucosa	Duodenum
8	chr14:65787400-65788600	Enhancers	A549	lung
9	chr14:65787400-65788800	Flanking Active TSS	GM12878-XiMat	blood
10	chr14:65787400-65789000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:65787400-65789000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:65787400-65789000	Enhancers	Placenta	Placenta
13	chr14:65787600-65788600	Enhancers	Stomach Mucosa	stomach
14	chr14:65787600-65788800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:65787600-65788800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:65787600-65789000	Enhancers	Primary T cells from cord blood	blood
17	chr14:65787600-65789000	Enhancers	HMEC	breast
18	chr14:65787800-65788600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr14:65787800-65788600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr14:65787800-65788800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:65787800-65789200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:65788000-65788600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:65788000-65788600	Enhancers	Dnd41	blood
24	chr14:65788000-65788800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:65788000-65788800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:65788000-65788800	Enhancers	Fetal Thymus	thymus
27	chr14:65788400-65790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:65788400-65800600	Weak transcription	Thymus	Thymus

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