Variant report

Variant	rs7306047
Chromosome Location	chr12:123383339-123383340
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	IKZF1	chr12:123383021-123383658	GM12878	blood:	n/a	n/a
2	NFIC	chr12:123383271-123383887	SK-N-SH	brain:	n/a	n/a
3	MYBL2	chr12:123383182-123383888	HepG2	liver:	n/a	n/a
4	MYC	chr12:123383284-123383747	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:123383055-123383768	MCF10A-Er-Src	breast:	n/a	chr12:123383699-123383708
6	MTA3	chr12:123382861-123383571	GM12878	blood:	n/a	n/a
7	CEBPB	chr12:123383309-123383827	ECC-1	luminal epithelium:	n/a	n/a
8	PBX3	chr12:123383268-123383409	GM12878	blood:	n/a	n/a
9	PBX3	chr12:123383060-123383855	SK-N-SH	brain:	n/a	n/a
10	ZC3H11A	chr12:123383313-123383442	K562	blood:	n/a	n/a
11	POLR2A	chr12:123383245-123383744	PANC-1	pancreas:	n/a	n/a
12	FOSL2	chr12:123383325-123383753	A549	lung:	n/a	chr12:123383699-123383708
13	TBL1XR1	chr12:123383047-123383553	GM12878	blood:	n/a	n/a
14	FOSL2	chr12:123383338-123383668	A549	lung:	n/a	n/a
15	MYC	chr12:123383284-123383827	MCF10A-Er-Src	breast:	n/a	n/a
16	TEAD4	chr12:123383106-123383965	HepG2	liver:	n/a	n/a
17	EBF1	chr12:123382940-123383359	GM12878	blood:	n/a	n/a
18	CEBPB	chr12:123383303-123383781	IMR90	lung:	n/a	n/a
19	SPI1	chr12:123383099-123383386	GM12891	blood:	n/a	n/a
20	EP300	chr12:123383302-123383768	HepG2	liver:	n/a	chr12:123383306-123383320
21	TBP	chr12:123383075-123383536	GM12878	blood:	n/a	n/a
22	MAX	chr12:123383278-123383749	SK-N-SH	brain:	n/a	n/a
23	EP300	chr12:123382873-123383782	GM12878	blood:	n/a	chr12:123383306-123383320
24	RUNX3	chr12:123382824-123383617	GM12878	blood:	n/a	chr12:123383242-123383251 chr12:123383242-123383251
25	POU2F2	chr12:123383167-123383635	GM12878	blood:	n/a	chr12:123383372-123383386 chr12:123383372-123383384 chr12:123383373-123383383 chr12:123383375-123383382 chr12:123383374-123383383 chr12:123383368-123383390
26	POLR2A	chr12:123383057-123383665	H1-neurons	neurons:	n/a	n/a
27	SP1	chr12:123383237-123383765	HepG2	liver:	n/a	n/a
28	EBF1	chr12:123382917-123383573	GM12878	blood:	n/a	n/a
29	MBD4	chr12:123383296-123383787	HepG2	liver:	n/a	n/a
30	PAX5	chr12:123383097-123383536	GM12878	blood:	n/a	chr12:123383220-123383229
31	CHD2	chr12:123383090-123383497	GM12878	blood:	n/a	n/a
32	MAZ	chr12:123383178-123383708	HepG2	liver:	n/a	n/a
33	TCF7L2	chr12:123383238-123383704	PANC-1	pancreas:	n/a	n/a
34	PAX5	chr12:123383110-123383473	GM12878	blood:	n/a	chr12:123383220-123383229
35	SP1	chr12:123383047-123383585	GM12878	blood:	n/a	n/a
36	STAT3	chr12:123383191-123383730	MCF10A-Er-Src	breast:	n/a	n/a
37	JUN	chr12:123383335-123383940	HepG2	liver:	n/a	chr12:123383699-123383708
38	FOXA1	chr12:123383093-123383784	HepG2	liver:	n/a	n/a
39	FOS	chr12:123383178-123383751	MCF10A-Er-Src	breast:	n/a	chr12:123383699-123383708
40	PAX5	chr12:123383156-123383418	GM12878	blood:	n/a	chr12:123383220-123383229
41	NFIC	chr12:123383092-123383956	SK-N-SH	brain:	n/a	n/a
42	TBP	chr12:123383136-123383706	HepG2	liver:	n/a	n/a
43	EP300	chr12:123383004-123383525	GM12878	blood:	n/a	chr12:123383306-123383320
44	POU2F2	chr12:123383118-123383657	GM12891	blood:	n/a	chr12:123383372-123383386 chr12:123383372-123383384 chr12:123383373-123383383 chr12:123383375-123383382 chr12:123383374-123383383 chr12:123383368-123383390
45	MAFF	chr12:123383262-123383729	HepG2	liver:	n/a	n/a
46	STAT3	chr12:123383317-123383730	MCF10A-Er-Src	breast:	n/a	n/a
47	BHLHE40	chr12:123383322-123383850	HepG2	liver:	n/a	n/a
48	FOSL2	chr12:123383073-123383894	SK-N-SH	brain:	n/a	chr12:123383699-123383708
49	CEBPB	chr12:123383324-123383906	HepG2	liver:	n/a	n/a
50	MXI1	chr12:123382924-123383559	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123379396..123382383-chr12:123382549..123386101,3	MCF-7	breast:
2	chr12:123380836..123382538-chr12:123382544..123384740,2	K562	blood:
3	chr12:123378665..123382104-chr12:123382212..123387589,4	MCF-7	breast:

Variant related genes	Relation type
VPS37B	TF binding region
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1026395	0.88[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037593	0.88[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744394	0.85[EUR][1000 genomes]
rs10744439	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773599	1.00[CHD][hapmap]
rs10847742	1.00[CHD][hapmap]
rs10847749	1.00[CHD][hapmap]
rs10847910	0.88[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060152	1.00[CHD][hapmap]
rs11060942	1.00[MEX][hapmap]
rs12580585	1.00[MEX][hapmap]
rs1671684	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs2061099	0.88[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271048	0.86[EUR][1000 genomes]
rs2343107	0.88[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844369	1.00[CHD][hapmap]
rs4759351	0.82[EUR][1000 genomes]
rs4759352	0.82[EUR][1000 genomes]
rs4759353	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs4759354	0.88[CEU][hapmap]
rs4759384	0.88[CEU][hapmap];0.83[GIH][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759388	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759438	0.88[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs6489247	1.00[ASW][hapmap];0.80[YRI][hapmap]
rs7138257	0.88[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298176	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306948	0.86[CEU][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485652	0.88[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958155	0.88[CEU][hapmap];0.82[GIH][hapmap];0.86[EUR][1000 genomes]
rs897384	0.82[EUR][1000 genomes]
rs897388	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs937765	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967281	1.00[CHD][hapmap]
rs9795629	1.00[CHD][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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123381000-123383800	Weak transcription	Colonic Mucosa	Colon
2	chr12:123381000-123384000	Enhancers	Thymus	Thymus
3	chr12:123381000-123384400	Weak transcription	Pancreas	Pancrea
4	chr12:123381000-123384600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:123381000-123384800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:123381000-123384800	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:123381000-123384800	Enhancers	Fetal Thymus	thymus
8	chr12:123381000-123386000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:123381000-123387400	Weak transcription	Liver	Liver
10	chr12:123381000-123387400	Weak transcription	Fetal Heart	heart
11	chr12:123381000-123387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:123381200-123383600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:123381200-123384000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:123381200-123384400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:123381200-123386000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:123381200-123386200	Weak transcription	Fetal Intestine Small	intestine
17	chr12:123381200-123387000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:123381200-123387400	Weak transcription	Fetal Brain Female	brain
19	chr12:123381200-123387600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:123381200-123388400	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:123382000-123384600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:123382200-123383800	Enhancers	Stomach Mucosa	stomach
23	chr12:123382400-123384000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:123382400-123385000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:123382600-123383400	Flanking Active TSS	HepG2	liver
26	chr12:123382600-123383800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:123382600-123384000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:123382600-123384000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:123382600-123384000	Enhancers	Brain Anterior Caudate	brain
30	chr12:123382600-123384000	Enhancers	Brain Hippocampus Middle	brain
31	chr12:123382600-123384600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:123382800-123383400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:123382800-123383400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:123382800-123383400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:123382800-123383400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:123382800-123383400	Flanking Active TSS	HMEC	breast
37	chr12:123382800-123383400	Enhancers	HUVEC	blood vessel
38	chr12:123382800-123383400	Enhancers	K562	blood
39	chr12:123382800-123383400	Flanking Active TSS	NHEK	skin
40	chr12:123382800-123383600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr12:123382800-123383600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr12:123382800-123383600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr12:123382800-123383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:123382800-123383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:123382800-123383600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr12:123382800-123383800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:123382800-123383800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:123382800-123383800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr12:123382800-123383800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr12:123382800-123383800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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