Variant report

Variant	rs1431123
Chromosome Location	chr12:41671320-41671321
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41670983..41671656-chr12:42057034..42057781,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11180478	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180566	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180567	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180646	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297017	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297322	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300590	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300840	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300884	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300953	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302094	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304516	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305125	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305252	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310793	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310860	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313636	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315362	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377633	0.82[EUR][1000 genomes]
rs1367606	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431125	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431126	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082222	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405771	0.82[EUR][1000 genomes]
rs3858730	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67832493	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268788	0.95[EUR][1000 genomes]
rs73281725	0.84[EUR][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41670600-41672200	Enhancers	Brain Germinal Matrix	brain
2	chr12:41670800-41671400	Enhancers	Fetal Brain Male	brain
3	chr12:41671000-41671400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:41671000-41671400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:41671000-41671400	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:41671000-41671400	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:41671000-41671400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:41671000-41671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:41671000-41671400	Active TSS	Brain Hippocampus Middle	brain
10	chr12:41671000-41671400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:41671000-41671400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:41671000-41671400	Enhancers	Fetal Heart	heart
13	chr12:41671000-41671400	Enhancers	Fetal Muscle Leg	muscle
14	chr12:41671000-41671400	Enhancers	Left Ventricle	heart
15	chr12:41671000-41671600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:41671000-41671600	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr12:41671000-41671600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:41671200-41671400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:41671200-41671400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr12:41671200-41671400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:41671200-41671400	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr12:41671200-41671400	Flanking Active TSS	Fetal Kidney	kidney
23	chr12:41671200-41671400	Enhancers	Fetal Stomach	stomach
24	chr12:41671200-41671600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:41671200-41671600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:41671200-41671600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:41671200-41671600	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr12:41671200-41671600	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr12:41671200-41671600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr12:41671200-41671600	Enhancers	Fetal Intestine Small	intestine
31	chr12:41671200-41671600	Enhancers	Gastric	stomach
32	chr12:41671200-41671800	Enhancers	Colon Smooth Muscle	Colon
33	chr12:41671200-41672000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:41671200-41684600	Weak transcription	Ovary	ovary

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