Variant report

Variant	rs7031845
Chromosome Location	chr9:1005131-1005132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr9:1005041-1005460	GM12878	blood:	n/a	n/a
2	TCF12	chr9:1005097-1005314	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr9:1005037-1005437	GM12878	blood:	n/a	n/a
4	RAD21	chr9:1005096-1005363	ECC-1	luminal epithelium:	n/a	n/a
5	MXI1	chr9:1005037-1005329	GM12878	blood:	n/a	n/a
6	MAZ	chr9:1005041-1005411	GM12878	blood:	n/a	n/a
7	CEBPB	chr9:1005008-1005372	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr9:1005100-1005250	HFF-Myc	foreskin:	n/a	n/a
9	CEBPB	chr9:1005104-1005356	HepG2	liver:	n/a	n/a
10	CEBPB	chr9:1005051-1005367	A549	lung:	n/a	n/a
11	MAFK	chr9:1005107-1005378	K562	blood:	n/a	n/a
12	HA-E2F1	chr9:1004956-1005608	MCF-7	breast:	n/a	n/a
13	RAD21	chr9:1004995-1005458	IMR90	lung:	n/a	n/a
14	RAD21	chr9:1005063-1005454	GM12878	blood:	n/a	n/a
15	ZNF143	chr9:1005057-1005454	GM12878	blood:	n/a	n/a
16	EBF1	chr9:1004914-1005364	GM12878	blood:	n/a	n/a
17	CTCF	chr9:1005065-1005469	IMR90	lung:	n/a	n/a
18	USF2	chr9:1004964-1005237	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr9:1005027-1005373	GM12878	blood:	n/a	n/a
20	EBF1	chr9:1004963-1005328	GM12878	blood:	n/a	n/a
21	RAD21	chr9:1004971-1005573	MCF-7	breast:	n/a	n/a
22	CTCF	chr9:1005091-1005416	K562	blood:	n/a	n/a
23	E2F4	chr9:1005079-1005426	MCF10A-Er-Src	breast:	n/a	n/a
24	POU2F2	chr9:1004930-1005448	GM12878	blood:	n/a	n/a
25	RAD21	chr9:1005047-1005411	GM12878	blood:	n/a	n/a
26	SPI1	chr9:1005113-1005234	K562	blood:	n/a	n/a
27	CEBPB	chr9:1005027-1005521	MCF-7	breast:	n/a	n/a
28	RAD21	chr9:1005070-1005415	SK-N-SH_RA	brain:	n/a	n/a
29	RUNX3	chr9:1004996-1005396	GM12878	blood:	n/a	n/a
30	RAD21	chr9:1005093-1005467	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr9:1005000-1005150	HAc	cerebellar:	n/a	n/a
32	CTCF	chr9:1005112-1005347	HepG2	liver:	n/a	n/a
33	TEAD4	chr9:1005108-1005409	K562	blood:	n/a	n/a
34	BACH1	chr9:1005054-1005459	H1-hESC	embryonic stem cell:	n/a	n/a
35	SMC3	chr9:1005101-1005429	HepG2	liver:	n/a	chr9:1005161-1005169
36	RFX5	chr9:1004958-1005408	GM12878	blood:	n/a	n/a
37	CTCF	chr9:1005120-1005270	GM12866	blood:	n/a	n/a
38	RAD21	chr9:1004928-1005494	HCT-116	colon:	n/a	n/a
39	CTCF	chr9:1005131-1005342	SK-N-SH_RA	brain:	n/a	n/a
40	RAD21	chr9:1004931-1005470	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr9:1005020-1005170	A549	lung:	n/a	n/a
42	CTCF	chr9:1004913-1005563	MCF-7	breast:	n/a	n/a
43	RAD21	chr9:1005040-1005439	GM12878	blood:	n/a	n/a
44	MAFK	chr9:1005069-1005456	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr9:1005120-1005270	WI-38	lung:	n/a	n/a
46	RAD21	chr9:1005041-1005491	A549	lung:	n/a	n/a
47	CTCF	chr9:1005094-1005482	K562	blood:	n/a	n/a
48	CTCF	chr9:1004950-1005528	MCF-7	breast:	n/a	n/a
49	CTCF	chr9:1004864-1005627	SK-N-SH	brain:	n/a	n/a
50	RAD21	chr9:1005112-1005425	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:893903..894431-chr9:1004790..1005383,2	K562	blood:
2	chr9:826413..827016-chr9:1004866..1005745,2	MCF-7	breast:
3	chr9:763938..764768-chr9:1004823..1005723,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1073P	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12236324	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025492	chr9:478813-1157169	Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv539897	chr9:478813-1157169	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv613037	chr9:643453-1138368	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv817248	chr9:706283-1457665	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv892010	chr9:841152-1069663	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1034070	chr9:911265-1152351	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv892013	chr9:943611-1047343	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1018926	chr9:965006-1014141	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv892014	chr9:972476-1032153	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1021193	chr9:978833-1020933	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1016222	chr9:999390-1284180	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1025752	chr9:1003311-1124524	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1022798	chr9:1003739-1033354	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:996400-1007400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr9:1000200-1009200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:1002200-1007000	Weak transcription	HSMM	muscle
4	chr9:1002200-1007600	Weak transcription	HSMMtube	muscle
5	chr9:1002800-1007000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:1004600-1005800	Enhancers	GM12878-XiMat	blood
7	chr9:1004800-1005200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:1004800-1005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:1004800-1005400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr9:1005000-1005200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:1005000-1005200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:1005000-1005200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr9:1005000-1005200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr9:1005000-1005200	Enhancers	Adipose Nuclei	Adipose
15	chr9:1005000-1005200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
16	chr9:1005000-1005200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
17	chr9:1005000-1005200	Bivalent Enhancer	Colon Smooth Muscle	Colon
18	chr9:1005000-1005400	Enhancers	Brain Hippocampus Middle	brain
19	chr9:1005000-1005400	Enhancers	Monocytes-CD14+_RO01746	blood

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