Variant report

Variant	rs1060233
Chromosome Location	chr12:117582617-117582618
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117581744..117585061-chr12:117588587..117590635,3	MCF-7	breast:
2	chr12:117578854..117580496-chr12:117581329..117583280,2	K562	blood:
3	chr12:117564140..117566013-chr12:117581148..117583072,2	MCF-7	breast:
4	chr12:117580874..117582720-chr12:117585893..117588244,3	MCF-7	breast:
5	chr12:117579571..117583522-chr12:117585472..117588878,4	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10850778	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850779	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10850780	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068380	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068388	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068393	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297092	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12298285	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316322	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12319767	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322862	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466852	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17508240	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238052	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766832	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4766833	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767508	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767509	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4767510	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767517	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56014034	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73206036	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206083	1.00[ASN][1000 genomes]
rs7487508	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117566800-117583400	Weak transcription	Fetal Kidney	kidney
2	chr12:117568600-117583200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:117568600-117588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:117571800-117583400	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:117572200-117586400	Weak transcription	NHDF-Ad	bronchial
6	chr12:117572200-117586800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:117572400-117583800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:117572400-117584000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:117572400-117596000	Weak transcription	Fetal Brain Male	brain
10	chr12:117573000-117588400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:117574600-117583400	Weak transcription	HMEC	breast
12	chr12:117578200-117617200	Strong transcription	Fetal Stomach	stomach
13	chr12:117578600-117591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:117578800-117583400	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:117578800-117583400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:117578800-117588400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:117578800-117588600	Strong transcription	Fetal Brain Female	brain
18	chr12:117578800-117588600	Weak transcription	Fetal Heart	heart
19	chr12:117579000-117588800	Strong transcription	Brain Germinal Matrix	brain
20	chr12:117579000-117618200	Strong transcription	Thymus	Thymus
21	chr12:117579200-117583400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:117579200-117583600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:117579200-117583600	Weak transcription	Colonic Mucosa	Colon
24	chr12:117579200-117602600	Weak transcription	Psoas Muscle	Psoas
25	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
26	chr12:117579400-117583400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:117579400-117585800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:117579400-117588600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:117579400-117616800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:117579600-117583400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:117579600-117584400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:117579600-117590800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:117579600-117591800	Weak transcription	NH-A	brain
34	chr12:117579800-117585400	Weak transcription	K562	blood
35	chr12:117579800-117585800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:117580000-117584000	Strong transcription	Primary B cells from cord blood	blood
37	chr12:117580000-117584400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:117580000-117584400	Strong transcription	Spleen	Spleen
39	chr12:117580000-117593400	Weak transcription	Small Intestine	intestine
40	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:117580200-117583600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:117580200-117584800	Strong transcription	Left Ventricle	heart
44	chr12:117580400-117593600	Weak transcription	HSMM	muscle
45	chr12:117580400-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:117580600-117584600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:117580600-117584800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr12:117580600-117585400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:117580600-117588800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:117580600-117589600	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links