Variant report

Variant	rs296734
Chromosome Location	chr9:93755197-93755198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr9:93754944-93755524	HCT-116	colon:	n/a	n/a
2	STAT3	chr9:93754903-93755405	MCF10A-Er-Src	breast:	n/a	chr9:93755381-93755392
3	PBX3	chr9:93754979-93755491	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr9:93754951-93755413	SK-N-SH	brain:	n/a	n/a
5	SP1	chr9:93754859-93755557	HCT-116	colon:	n/a	n/a
6	EP300	chr9:93754992-93755374	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr9:93754902-93755528	HCT-116	colon:	n/a	n/a
8	POLR2A	chr9:93755066-93755325	HCT-116	colon:	n/a	n/a
9	POLR2A	chr9:93755043-93755350	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr9:93754882-93755465	A549	lung:	n/a	n/a
11	GATA2	chr9:93754853-93755406	HUVEC	blood vessel:	n/a	n/a
12	EP300	chr9:93755068-93755384	HepG2	liver:	n/a	n/a
13	SP1	chr9:93754901-93755498	HCT-116	colon:	n/a	n/a
14	POLR2A	chr9:93755044-93755356	HCT-116	colon:	n/a	n/a
15	EP300	chr9:93754916-93755508	SK-N-SH	brain:	n/a	n/a
16	EP300	chr9:93754848-93755546	A549	lung:	n/a	n/a
17	FOSL2	chr9:93754952-93755432	SK-N-SH	brain:	n/a	n/a
18	TCF7L2	chr9:93755104-93755323	Hela-S3	cervix:	n/a	n/a
19	SMC3	chr9:93755050-93755358	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr9:93755009-93755386	A549	lung:	n/a	n/a
21	POLR2A	chr9:93754918-93755459	U87	brain:	n/a	n/a
22	CEBPB	chr9:93754989-93755399	IMR90	lung:	n/a	n/a
23	PBX3	chr9:93754904-93755417	SK-N-SH	brain:	n/a	n/a
24	E2F4	chr9:93755118-93755389	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr9:93755045-93755352	Hela-S3	cervix:	n/a	n/a
26	FOSL2	chr9:93754971-93755395	MCF-7	breast:	n/a	n/a
27	JUND	chr9:93755045-93755428	A549	lung:	n/a	n/a
28	GATA3	chr9:93754907-93755474	A549	lung:	n/a	n/a
29	FOSL2	chr9:93754258-93755562	A549	lung:	n/a	n/a
30	SP1	chr9:93754872-93755426	A549	lung:	n/a	n/a
31	POLR2A	chr9:93754918-93755390	HUVEC	blood vessel:	n/a	n/a
32	GABPA	chr9:93755050-93755439	A549	lung:	n/a	n/a
33	BCL3	chr9:93754963-93755426	A549	lung:	n/a	n/a
34	NFIC	chr9:93754997-93755405	ECC-1	luminal epithelium:	n/a	n/a
35	ATF3	chr9:93754947-93755426	A549	lung:	n/a	n/a
36	SIN3AK20	chr9:93755105-93755268	PFSK-1	brain:	n/a	n/a
37	FOS	chr9:93754938-93755429	HUVEC	blood vessel:	n/a	chr9:93755212-93755223
38	MYC	chr9:93754912-93755426	MCF10A-Er-Src	breast:	n/a	n/a
39	JUND	chr9:93754904-93755534	SK-N-SH	brain:	n/a	n/a
40	JUN	chr9:93754997-93755404	HUVEC	blood vessel:	n/a	n/a
41	SP1	chr9:93754799-93755469	A549	lung:	n/a	n/a
42	FOS	chr9:93755003-93755438	MCF10A-Er-Src	breast:	n/a	chr9:93755212-93755223
43	CEBPB	chr9:93754796-93755548	HCT-116	colon:	n/a	n/a
44	GABPA	chr9:93754992-93755470	A549	lung:	n/a	n/a
45	MAX	chr9:93754960-93755506	A549	lung:	n/a	n/a
46	FOSL1	chr9:93754806-93755545	HCT-116	colon:	n/a	n/a
47	GATA3	chr9:93755099-93755381	MCF-7	breast:	n/a	n/a
48	GATA3	chr9:93754834-93755513	SK-N-SH	brain:	n/a	n/a
49	REST	chr9:93754860-93755475	A549	lung:	n/a	n/a
50	MAFK	chr9:93755018-93755383	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93752121..93756766-chr9:93756926..93762091,5	MCF-7	breast:
2	chr9:93748152..93750043-chr9:93753873..93756250,2	MCF-7	breast:
3	chr9:93726945..93729770-chr9:93753086..93755421,2	MCF-7	breast:
4	chr9:93740191..93743980-chr9:93753139..93756785,4	MCF-7	breast:
5	chr9:93699190..93702155-chr9:93754434..93756320,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260454	TF binding region
ENSG00000260454	Chromatin interaction
ENSG00000228216	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs167200	0.88[EUR][1000 genomes]
rs296605	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs296607	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs296608	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs296609	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs296610	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs296640	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs296642	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs296644	0.91[EUR][1000 genomes]
rs296645	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs296646	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs296698	0.99[EUR][1000 genomes]
rs296699	0.99[EUR][1000 genomes]
rs296701	0.99[EUR][1000 genomes]
rs296702	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs296703	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs296714	0.81[EUR][1000 genomes]
rs296715	0.81[EUR][1000 genomes]
rs296716	0.81[EUR][1000 genomes]
rs296717	0.82[EUR][1000 genomes]
rs296721	0.81[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs296730	0.99[EUR][1000 genomes]
rs296731	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs296732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs296733	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs387545	0.84[EUR][1000 genomes]
rs440807	0.84[EUR][1000 genomes]
rs450589	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs70514	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3378179	chr9:93754853-93755231	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93752400-93755200	Enhancers	Liver	Liver
2	chr9:93753800-93755200	Enhancers	Hela-S3	cervix
3	chr9:93753800-93755200	Enhancers	Osteobl	bone
4	chr9:93753800-93755400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:93753800-93755600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:93753800-93755600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:93754000-93755200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr9:93754000-93755200	Enhancers	HSMM	muscle
9	chr9:93754000-93755200	Enhancers	HSMMtube	muscle
10	chr9:93754000-93755600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:93754000-93755600	Enhancers	HUVEC	blood vessel
12	chr9:93754000-93755600	Enhancers	NH-A	brain
13	chr9:93754200-93755200	Enhancers	NHEK	skin
14	chr9:93754400-93755200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:93754600-93755200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:93754800-93756400	Weak transcription	Adipose Nuclei	Adipose
17	chr9:93754800-93757600	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:93754800-93758000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:93754800-93763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:93755000-93755600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:93755000-93758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:93755000-93758000	Weak transcription	NHDF-Ad	bronchial
23	chr9:93755000-93758200	Weak transcription	NHLF	lung
24	chr9:93755000-93760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:93755000-93760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:93755000-93760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:93755000-93760800	Weak transcription	HMEC	breast
28	chr9:93755000-93761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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