Variant report

Variant	rs7503436
Chromosome Location	chr17:16885010-16885011
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	BHLHE40	chr17:16884045-16885056	GM12878	blood:	n/a	n/a
2	ATF2	chr17:16883876-16885053	GM12878	blood:	n/a	n/a
3	CHD2	chr17:16884067-16885031	GM12878	blood:	n/a	n/a
4	CREB1	chr17:16884025-16885126	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:16884044-16885410	GM19099	blood:	n/a	n/a
6	PAX5	chr17:16883830-16885115	GM12878	blood:	n/a	n/a
7	RUNX3	chr17:16883904-16885045	GM12878	blood:	n/a	n/a
8	STAT5A	chr17:16884041-16885033	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr17:16884126-16885022	GM12878	blood:	n/a	n/a
10	RUNX3	chr17:16883872-16885121	GM12878	blood:	n/a	n/a
11	MTA3	chr17:16883380-16885310	GM12878	blood:	n/a	n/a
12	WRNIP1	chr17:16884148-16885093	GM12878	blood:	n/a	n/a
13	STAT5A	chr17:16883850-16885123	GM12878	blood:	n/a	n/a
14	MTA3	chr17:16883959-16885122	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:16883690-16885128	GM12878	blood:	n/a	n/a
16	TCF3	chr17:16884063-16885207	GM12878	blood:	n/a	chr17:16884873-16884887
17	TCF12	chr17:16884490-16885062	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:16884026-16885046	GM12878	blood:	n/a	n/a
19	SMC3	chr17:16884057-16885050	GM12878	blood:	n/a	n/a
20	MXI1	chr17:16884079-16885040	GM12878	blood:	n/a	n/a
21	FOXM1	chr17:16884382-16885090	GM12878	blood:	n/a	n/a
22	TBP	chr17:16884044-16885063	GM12878	blood:	n/a	n/a
23	EP300	chr17:16884062-16885036	GM12878	blood:	n/a	n/a
24	EP300	chr17:16884468-16885066	GM12878	blood:	n/a	n/a
25	NFIC	chr17:16883450-16885037	GM12878	blood:	n/a	n/a
26	TCF3	chr17:16884103-16885089	GM12878	blood:	n/a	chr17:16884873-16884887
27	CHD1	chr17:16884066-16885088	GM12878	blood:	n/a	n/a
28	POLR2A	chr17:16883944-16885076	GM12892	blood:	n/a	n/a
29	NFATC1	chr17:16884010-16885082	GM12878	blood:	n/a	n/a
30	RELA	chr17:16884047-16885086	GM19099	blood:	n/a	n/a
31	EP300	chr17:16883964-16885020	GM12878	blood:	n/a	n/a
32	POLR2A	chr17:16883892-16885044	GM12892	blood:	n/a	n/a
33	BCLAF1	chr17:16884014-16885035	GM12878	blood:	n/a	n/a
34	ELF1	chr17:16884083-16885092	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:16883730-16885029	GM12892	blood:	n/a	n/a
36	PML	chr17:16883943-16885135	GM12878	blood:	n/a	n/a
37	FOXM1	chr17:16883860-16885035	GM12878	blood:	n/a	n/a
38	POU2F2	chr17:16884030-16885077	GM12878	blood:	n/a	n/a
39	IRF4	chr17:16884059-16885030	GM12878	blood:	n/a	n/a
40	CEBPB	chr17:16883865-16885119	GM12878	blood:	n/a	n/a
41	RCOR1	chr17:16884101-16885104	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000230709	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73979043	1.00[AMR][1000 genomes]
rs73979062	1.00[AMR][1000 genomes]
rs73979086	1.00[AMR][1000 genomes]
rs8079680	1.00[YRI][hapmap]

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	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2761948	chr17:16868561-16920568	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv543230	chr17:16878578-16892465	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16875200-16885800	Enhancers	Primary B cells from cord blood	blood
2	chr17:16875800-16887200	Enhancers	Primary B cells from peripheral blood	blood
3	chr17:16881600-16889800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr17:16883200-16885200	Flanking Active TSS	GM12878-XiMat	blood
5	chr17:16883800-16885600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:16884000-16887000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:16884200-16885600	Enhancers	Fetal Thymus	thymus
8	chr17:16884200-16885800	Enhancers	Fetal Heart	heart
9	chr17:16884400-16890000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:16884600-16889600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:16884800-16889800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:16884800-16889800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:16884800-16889800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:16884800-16890400	Weak transcription	NHDF-Ad	bronchial
15	chr17:16885000-16885200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:16885000-16890600	Weak transcription	Rectal Mucosa Donor 29	rectum

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