Variant report

Variant	rs12321592
Chromosome Location	chr12:117364830-117364831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117171214..117173165-chr12:117362456..117365349,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1032528	0.93[EUR][1000 genomes]
rs1051879	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11068246	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836743	0.80[EUR][1000 genomes]
rs12099584	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12308592	1.00[AMR][1000 genomes]
rs12313248	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12316811	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318749	1.00[CEU][hapmap]
rs16947046	1.00[CEU][hapmap]
rs16947122	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947131	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16947144	0.86[EUR][1000 genomes]
rs16947209	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16947233	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4094199	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41364651	1.00[EUR][1000 genomes]
rs4451816	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57135901	0.86[EUR][1000 genomes]
rs58882507	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59373313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59623332	0.80[EUR][1000 genomes]
rs60272946	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61178788	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61207925	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61288722	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7133142	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7133609	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7136880	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7302713	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7305313	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7314897	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs73395566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397424	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397478	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73397488	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399480	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399483	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73399502	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7958175	0.80[EUR][1000 genomes]
rs7959860	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963012	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs884273	1.00[CEU][hapmap]

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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:117350000-117365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
8	chr12:117350200-117366000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:117350200-117366000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:117350200-117366800	Weak transcription	Spleen	Spleen
11	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
12	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
13	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
14	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
15	chr12:117355600-117365400	Weak transcription	Lung	lung
16	chr12:117357000-117365800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:117357200-117365400	Weak transcription	Placenta	Placenta
18	chr12:117357200-117365600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:117357200-117367600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:117357400-117365400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:117357600-117365000	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:117357800-117367600	Weak transcription	Fetal Heart	heart
23	chr12:117358000-117366000	Weak transcription	Liver	Liver
24	chr12:117358400-117365600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:117358400-117366000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:117358400-117366000	Weak transcription	Fetal Kidney	kidney
27	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
28	chr12:117358600-117365000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:117358600-117365000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:117358600-117365200	Weak transcription	Pancreas	Pancrea
31	chr12:117358600-117366000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
33	chr12:117359000-117365400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:117359200-117367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:117359400-117366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:117361400-117365000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:117362000-117365200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:117362200-117365000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:117362400-117365600	Enhancers	Colon Smooth Muscle	Colon
40	chr12:117362600-117365400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:117362800-117365000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:117362800-117365600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:117362800-117366000	Weak transcription	Hela-S3	cervix
44	chr12:117363000-117365600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:117363000-117367400	Weak transcription	HepG2	liver
46	chr12:117363200-117365000	Enhancers	Primary T cells from cord blood	blood
47	chr12:117363200-117365000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr12:117363200-117365000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:117363200-117365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:117363200-117365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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