Variant report

Variant	rs12311527
Chromosome Location	chr12:49935027-49935028
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49930852..49937653-chr12:49953841..49959391,7	K562	blood:
2	chr12:49935009..49937186-chr12:49951821..49953735,2	K562	blood:
3	chr12:49930865..49935032-chr12:49959689..49963246,5	K562	blood:
4	chr12:49933783..49936509-chr12:49951821..49953726,3	K562	blood:
5	chr12:49931420..49936579-chr12:49960006..49963071,6	MCF-7	breast:
6	chr12:49934751..49937264-chr12:49959231..49961554,2	MCF-7	breast:
7	chr12:49657699..49660591-chr12:49932809..49935394,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11169063	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169065	0.94[ASN][1000 genomes]
rs11169069	0.94[ASN][1000 genomes]
rs11169070	0.89[ASN][1000 genomes]
rs11169073	0.94[ASN][1000 genomes]
rs11169076	0.94[ASN][1000 genomes]
rs11169080	0.84[ASN][1000 genomes]
rs11169081	0.94[ASN][1000 genomes]
rs11169082	0.94[ASN][1000 genomes]
rs11169092	0.88[ASN][1000 genomes]
rs11169097	0.88[ASN][1000 genomes]
rs11833411	0.88[ASN][1000 genomes]
rs12299505	0.88[ASN][1000 genomes]
rs12299513	0.88[ASN][1000 genomes]
rs12311839	0.94[ASN][1000 genomes]
rs12314878	0.94[ASN][1000 genomes]
rs12320556	0.94[ASN][1000 genomes]
rs12321819	0.94[ASN][1000 genomes]
rs13066	0.94[ASN][1000 genomes]
rs13906	0.94[ASN][1000 genomes]
rs17123808	0.94[ASN][1000 genomes]
rs1902329	0.94[ASN][1000 genomes]
rs1902330	0.94[ASN][1000 genomes]
rs2005195	0.94[ASN][1000 genomes]
rs2241418	0.94[ASN][1000 genomes]
rs2278068	0.94[ASN][1000 genomes]
rs2278069	0.94[ASN][1000 genomes]
rs2278070	0.91[ASN][1000 genomes]
rs2303305	0.91[ASN][1000 genomes]
rs3815832	0.94[ASN][1000 genomes]
rs3887727	0.84[ASN][1000 genomes]
rs3887728	0.94[ASN][1000 genomes]
rs4045193	0.88[ASN][1000 genomes]
rs52824916	0.91[ASN][1000 genomes]
rs55853522	0.94[ASN][1000 genomes]
rs57916875	0.91[ASN][1000 genomes]
rs58125498	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58278271	0.85[ASN][1000 genomes]
rs59940006	0.94[ASN][1000 genomes]
rs7131915	0.94[ASN][1000 genomes]
rs7132792	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296281	0.94[ASN][1000 genomes]
rs7301209	0.94[ASN][1000 genomes]
rs73305008	0.94[ASN][1000 genomes]
rs73305012	0.94[ASN][1000 genomes]
rs7952938	0.86[ASN][1000 genomes]
rs7953911	0.94[ASN][1000 genomes]
rs7965658	0.91[ASN][1000 genomes]
rs7970241	0.94[ASN][1000 genomes]
rs7973389	0.94[ASN][1000 genomes]
rs7975599	0.94[ASN][1000 genomes]
rs7975712	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7977389	0.94[ASN][1000 genomes]
rs7979285	0.84[ASN][1000 genomes]
rs876889	0.91[ASN][1000 genomes]
rs933738	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49932800-49935400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr12:49933000-49942600	Weak transcription	Pancreas	Pancrea
3	chr12:49933400-49935400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:49933400-49942000	Weak transcription	Right Ventricle	heart
5	chr12:49933400-49942400	Weak transcription	Right Atrium	heart
6	chr12:49933600-49935200	Enhancers	HMEC	breast
7	chr12:49933600-49935400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:49933600-49935800	Enhancers	Primary B cells from cord blood	blood
9	chr12:49933600-49937600	Weak transcription	Ovary	ovary
10	chr12:49933800-49935200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr12:49934000-49935200	Bivalent Enhancer	Fetal Brain Female	brain
12	chr12:49934000-49935400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:49934000-49937600	Weak transcription	Brain Anterior Caudate	brain
14	chr12:49934200-49935200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:49934200-49936800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:49934200-49937000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:49934200-49942000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:49934400-49935400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:49934400-49935600	Enhancers	NHEK	skin
20	chr12:49934400-49936000	Weak transcription	Esophagus	oesophagus
21	chr12:49934400-49936200	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:49934400-49937000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:49934600-49935400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
24	chr12:49934600-49935800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:49934600-49942200	Weak transcription	Brain Angular Gyrus	brain
26	chr12:49934800-49935200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:49934800-49935200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:49934800-49935400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr12:49934800-49935400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:49934800-49935600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:49934800-49935800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:49935000-49935200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr12:49935000-49935400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:49935000-49935400	Bivalent Enhancer	HepG2	liver

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