Variant report

Variant	rs812883
Chromosome Location	chr12:67748588-67748589
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67748303..67751189-chr12:68042035..68043967,2	MCF-7	breast:
2	chr12:67661958..67663624-chr12:67746766..67749634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1066392	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1066397	1.00[AMR][1000 genomes]
rs1082703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082707	1.00[AFR][1000 genomes]
rs1082712	1.00[AFR][1000 genomes]
rs1082719	1.00[AFR][1000 genomes]
rs1143757	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143955	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1186260	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252363	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252411	1.00[AMR][1000 genomes]
rs1252420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252433	1.00[AFR][1000 genomes]
rs1392588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1392589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1658782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1697249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873224	1.00[AMR][1000 genomes]
rs710621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099404	1.00[AMR][1000 genomes]
rs74099424	1.00[AMR][1000 genomes]
rs74099464	1.00[AMR][1000 genomes]
rs775311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775640	1.00[AMR][1000 genomes]
rs775642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775649	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812882	1.00[AFR][1000 genomes];1.00[AMR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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 target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67741800-67759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67747800-67749000	Enhancers	Left Ventricle	heart
4	chr12:67748000-67748600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:67748000-67748600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:67748000-67748800	Weak transcription	Fetal Heart	heart
7	chr12:67748000-67748800	Flanking Active TSS	Osteobl	bone
8	chr12:67748000-67749000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr12:67748000-67750000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:67748000-67750200	Enhancers	Fetal Lung	lung
11	chr12:67748000-67753600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:67748000-67753800	Enhancers	HSMM	muscle
13	chr12:67748200-67748600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:67748200-67748600	Enhancers	Fetal Kidney	kidney
15	chr12:67748200-67748600	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:67748200-67748600	Enhancers	HSMMtube	muscle
17	chr12:67748200-67748800	Enhancers	Adipose Nuclei	Adipose
18	chr12:67748200-67749000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:67748200-67749000	Enhancers	Psoas Muscle	Psoas
20	chr12:67748200-67749800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:67748200-67750200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:67748200-67750200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:67748200-67750200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:67748200-67750200	Enhancers	NH-A	brain
25	chr12:67748200-67750400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:67748400-67748600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:67748400-67748600	Enhancers	Fetal Stomach	stomach
28	chr12:67748400-67748600	Flanking Active TSS	Right Atrium	heart
29	chr12:67748400-67748600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr12:67748400-67749600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:67748400-67749600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:67748400-67749800	Weak transcription	Small Intestine	intestine
33	chr12:67748400-67751200	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:67748400-67752200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links