Variant report

Variant	rs2132317
Chromosome Location	chr12:26160303-26160304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26158771..26161090-chr4:116678922..116681398,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10505990	0.86[JPT][hapmap]
rs10842643	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10842644	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10842653	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11048360	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11048372	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11048378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11048379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11048380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11048381	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048382	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11048383	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11048384	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11048389	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048390	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1120064	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1149804	0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11561207	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12227689	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12578169	0.95[JPT][hapmap];0.85[AMR][1000 genomes]
rs12579489	0.81[AMR][1000 genomes]
rs12812200	0.88[CHB][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12812752	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12813641	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12818478	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12831248	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1390326	0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs1495660	0.81[AMR][1000 genomes]
rs1691889	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16929784	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16929817	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16929830	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16929846	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16929940	0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs16929945	0.95[JPT][hapmap];0.85[AMR][1000 genomes]
rs16929950	0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs16929958	0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs2055180	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2279680	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2343201	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643941	1.00[CEU][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34294573	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34595529	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35924984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741546	0.81[AMR][1000 genomes]
rs3803009	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58299475	0.81[AMR][1000 genomes]
rs59757232	0.81[AMR][1000 genomes]
rs60335536	0.85[AMR][1000 genomes]
rs61622173	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6487525	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs706524	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs706526	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs706531	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs706532	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs706533	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs706538	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7132590	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7134721	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7298162	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7953171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963603	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963856	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829837	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829987	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853656	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:26146200-26163000	Weak transcription	Lung	lung
3	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
4	chr12:26150800-26163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:26151000-26163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:26151400-26160400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:26151400-26162000	Weak transcription	Hela-S3	cervix
8	chr12:26152200-26162800	Weak transcription	HSMM	muscle
9	chr12:26154800-26163400	Weak transcription	HSMMtube	muscle
10	chr12:26155800-26163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:26156000-26162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:26156200-26161800	Weak transcription	Fetal Lung	lung
13	chr12:26156200-26163000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:26156400-26161600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:26156400-26161800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:26156400-26161800	Weak transcription	Osteobl	bone
17	chr12:26156400-26162400	Weak transcription	Ovary	ovary
18	chr12:26156400-26162600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:26156400-26162600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:26156400-26163000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:26156400-26163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:26156600-26160400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:26156600-26162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:26156600-26162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:26156600-26162800	Weak transcription	NH-A	brain
26	chr12:26156600-26163600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:26157200-26161200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:26157400-26161000	Weak transcription	Psoas Muscle	Psoas
29	chr12:26157800-26161600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:26158600-26162600	Weak transcription	HMEC	breast
31	chr12:26158800-26160600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:26158800-26162600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:26159400-26160800	Enhancers	Colon Smooth Muscle	Colon
34	chr12:26159400-26162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:26159600-26160600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr12:26159600-26160600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:26159600-26160600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:26159600-26160600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:26159600-26160600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:26159600-26160600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:26159600-26160600	Enhancers	Right Atrium	heart
42	chr12:26159600-26160600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:26159600-26160800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:26159800-26160400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:26159800-26160400	Enhancers	Fetal Heart	heart
46	chr12:26159800-26160600	Enhancers	Left Ventricle	heart
47	chr12:26159800-26160800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:26159800-26160800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:26160000-26160600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:26160000-26160600	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links