Variant report

Variant	rs12831063
Chromosome Location	chr12:48599198-48599199
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	POLR2A	chr12:48599110-48599208	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48597340..48600068-chr12:48604806..48607585,2	MCF-7	breast:

Variant related genes	Relation type
OR10AD1	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1074175	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747532	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783235	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783240	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783241	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783248	0.82[ASN][1000 genomes]
rs10875780	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875781	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875794	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10875795	0.83[AMR][1000 genomes]
rs10875797	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10875798	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11168454	0.81[AFR][1000 genomes]
rs11168458	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168470	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168471	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168472	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168473	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168475	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168485	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168488	0.90[ASN][1000 genomes]
rs11168494	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168513	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168515	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11168532	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11168535	0.86[AMR][1000 genomes]
rs11168541	1.00[JPT][hapmap]
rs12422306	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12423404	0.83[ASN][1000 genomes]
rs12423529	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12810029	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12815219	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12822431	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12824405	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12827175	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1387261	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1844261	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1906717	0.86[JPT][hapmap]
rs2171643	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2220459	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2261608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2291483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2409002	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2634685	0.86[JPT][hapmap]
rs2732458	0.86[JPT][hapmap]
rs34157519	0.86[AMR][1000 genomes]
rs35267282	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3752820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6580661	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7136959	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs716176	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7301176	0.86[JPT][hapmap]
rs73116262	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7974811	0.83[ASN][1000 genomes]
rs923398	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh 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
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv976031	chr12:48594968-48610975	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv976038	chr12:48596152-48610975	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv518743	chr12:48597507-48600520	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48592800-48600400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:48593200-48600200	Weak transcription	Right Ventricle	heart
3	chr12:48593400-48600800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:48595200-48600400	Weak transcription	Psoas Muscle	Psoas
5	chr12:48595600-48609600	Weak transcription	Placenta	Placenta
6	chr12:48595800-48599600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:48595800-48600800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:48596000-48599600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:48596600-48603800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:48597000-48606600	Weak transcription	Left Ventricle	heart
11	chr12:48597000-48606800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:48597800-48599200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
13	chr12:48598000-48599600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr12:48598200-48599200	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr12:48598400-48599200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr12:48598400-48599200	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr12:48598400-48599200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr12:48598400-48599400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr12:48598400-48599400	Strong transcription	Brain Cingulate Gyrus	brain
20	chr12:48598400-48599400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:48598400-48599400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:48598400-48599600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr12:48598400-48600200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:48598600-48599200	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr12:48598600-48599200	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr12:48598600-48599400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr12:48598600-48599400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
28	chr12:48598600-48599400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr12:48598600-48599400	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr12:48598600-48599800	ZNF genes & repeats	Ovary	ovary
31	chr12:48598800-48599200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:48598800-48599400	ZNF genes & repeats	Fetal Heart	heart
33	chr12:48599000-48599200	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr12:48599000-48599200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr12:48599000-48599600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr12:48599000-48599600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:48599000-48599800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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