Variant report

Variant	rs977818
Chromosome Location	chr12:59462848-59462849
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	chr12:59455363..59458271-chr12:59461574..59463083,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1444092	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1444094	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1444095	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1444100	1.00[AMR][1000 genomes]
rs1474116	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1546517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1838311	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1850720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1877258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1878870	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2120526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2197334	1.00[AMR][1000 genomes]
rs4617627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4760258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7313948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7954165	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59450000-59464000	Weak transcription	Hela-S3	cervix
2	chr12:59454400-59471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:59460800-59463600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:59461200-59464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:59461200-59464400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:59461400-59463000	Weak transcription	HUVEC	blood vessel
7	chr12:59461400-59464200	Weak transcription	Fetal Kidney	kidney
8	chr12:59461400-59465600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:59461400-59468800	Weak transcription	Fetal Stomach	stomach
10	chr12:59461400-59469400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:59461800-59463200	Weak transcription	NH-A	brain
12	chr12:59461800-59463400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:59461800-59463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:59461800-59469000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:59462000-59463200	Weak transcription	Osteobl	bone
16	chr12:59462200-59463200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:59462200-59463200	Weak transcription	NHEK	skin
18	chr12:59462200-59464000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:59462200-59464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:59462200-59466400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:59462600-59463400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:59462800-59463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:59462800-59463200	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links