Variant report

Variant	rs7132792
Chromosome Location	chr12:49934565-49934566
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	MYC	chr12:49934342-49934593	MCF10A-Er-Src	breast:	n/a	chr12:49934462-49934473 chr12:49934512-49934523
2	FOS	chr12:49934447-49934586	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:49934331-49934671	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:49934290-49934666	MCF10A-Er-Src	breast:	n/a	n/a
5	SUZ12	chr12:49933283-49934929	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49930852..49937653-chr12:49953841..49959391,7	K562	blood:
2	chr12:49930865..49935032-chr12:49959689..49963246,5	K562	blood:
3	chr12:49933783..49936509-chr12:49951821..49953726,3	K562	blood:
4	chr12:49931420..49936579-chr12:49960006..49963071,6	MCF-7	breast:
5	chr12:49657699..49660591-chr12:49932809..49935394,2	MCF-7	breast:

Variant related genes	Relation type
KCNH3	TF binding region
ENSG00000167553	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11169063	0.93[CHD][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169065	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11169069	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11169070	0.89[ASN][1000 genomes]
rs11169073	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11169076	0.94[ASN][1000 genomes]
rs11169080	0.93[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs11169081	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11169082	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11169092	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11169097	0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11169101	0.85[JPT][hapmap]
rs11169104	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs11169106	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs1150057	0.85[JPT][hapmap]
rs11833411	0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11834380	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs12299505	0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12299513	0.88[ASN][1000 genomes]
rs12303310	1.00[JPT][hapmap]
rs12310510	1.00[JPT][hapmap]
rs12311527	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311839	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12314878	0.94[ASN][1000 genomes]
rs12320556	0.94[ASN][1000 genomes]
rs12321819	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13066	0.94[ASN][1000 genomes]
rs13906	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1574326	1.00[JPT][hapmap]
rs17123808	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1902329	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1902330	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2005195	0.94[ASN][1000 genomes]
rs2241418	0.94[ASN][1000 genomes]
rs2278068	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2278069	0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2278070	0.91[ASN][1000 genomes]
rs2303305	0.86[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2336058	1.00[JPT][hapmap]
rs2878532	0.85[JPT][hapmap]
rs3815832	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3887727	0.93[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs3887728	0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4045193	0.88[ASN][1000 genomes]
rs4073998	0.82[JPT][hapmap]
rs4133070	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs4584654	1.00[JPT][hapmap]
rs52824916	0.91[ASN][1000 genomes]
rs55853522	0.94[ASN][1000 genomes]
rs57916875	0.91[ASN][1000 genomes]
rs58125498	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58278271	0.85[ASN][1000 genomes]
rs59940006	0.94[ASN][1000 genomes]
rs7131915	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7133398	0.89[MEX][hapmap]
rs7137976	1.00[JPT][hapmap]
rs7295556	0.89[MEX][hapmap]
rs7296281	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7301209	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73305008	0.94[ASN][1000 genomes]
rs73305012	0.94[ASN][1000 genomes]
rs7952734	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7952938	0.86[ASN][1000 genomes]
rs7953911	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7954994	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7956181	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7962863	0.93[CHD][hapmap];0.85[JPT][hapmap]
rs7963954	0.86[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap]
rs7965658	0.93[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs7970241	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7973389	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7975599	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7975712	0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7977389	0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7979285	0.84[ASN][1000 genomes]
rs8626	0.93[CHD][hapmap];0.85[JPT][hapmap]
rs876889	0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs933738	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1801776	chr12:49915354-49934565	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3431223	chr12:49931235-49934833	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49931200-49935000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:49932800-49935400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr12:49933000-49942600	Weak transcription	Pancreas	Pancrea
4	chr12:49933400-49934600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr12:49933400-49934800	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr12:49933400-49934800	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr12:49933400-49935000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:49933400-49935400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:49933400-49942000	Weak transcription	Right Ventricle	heart
10	chr12:49933400-49942400	Weak transcription	Right Atrium	heart
11	chr12:49933600-49934600	Enhancers	A549	lung
12	chr12:49933600-49934800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:49933600-49934800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:49933600-49935200	Enhancers	HMEC	breast
15	chr12:49933600-49935400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:49933600-49935800	Enhancers	Primary B cells from cord blood	blood
17	chr12:49933600-49937600	Weak transcription	Ovary	ovary
18	chr12:49933800-49934600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:49933800-49935000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr12:49933800-49935200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr12:49934000-49934600	Active TSS	Brain Angular Gyrus	brain
22	chr12:49934000-49935200	Bivalent Enhancer	Fetal Brain Female	brain
23	chr12:49934000-49935400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:49934000-49937600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:49934200-49934600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:49934200-49934600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr12:49934200-49934800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:49934200-49935000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:49934200-49935200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:49934200-49936800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:49934200-49937000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:49934200-49942000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:49934400-49934600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:49934400-49934600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:49934400-49934800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:49934400-49935000	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr12:49934400-49935400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:49934400-49935600	Enhancers	NHEK	skin
39	chr12:49934400-49936000	Weak transcription	Esophagus	oesophagus
40	chr12:49934400-49936200	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:49934400-49937000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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