Variant report

Variant	rs2603117
Chromosome Location	chr12:50174806-50174807
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50174101..50175793-chr12:50221026..50222942,2	MCF-7	breast:
2	chr12:50172236..50175576-chr12:50176494..50178771,3	MCF-7	breast:
3	chr12:50172716..50175610-chr12:50278346..50281204,2	K562	blood:

Variant related genes	Relation type
ENSG00000167566	Chromatin interaction
ENSG00000258057	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2603102	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2603103	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2603115	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2720299	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4439592	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4473012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs695061	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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50158800-50181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:50159200-50177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:50159400-50178600	Weak transcription	Right Ventricle	heart
4	chr12:50160600-50183400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:50170000-50184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:50170200-50184400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:50170800-50176600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:50170800-50191200	Weak transcription	Brain Substantia Nigra	brain
9	chr12:50172000-50183400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:50172200-50177200	Weak transcription	Right Atrium	heart
11	chr12:50172200-50177600	Weak transcription	Fetal Thymus	thymus
12	chr12:50172400-50177200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:50172400-50177400	Weak transcription	K562	blood
14	chr12:50172400-50177600	Weak transcription	Hela-S3	cervix
15	chr12:50172400-50183800	Weak transcription	Pancreas	Pancrea
16	chr12:50172400-50192600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:50172800-50184600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:50173000-50177200	Weak transcription	Placenta	Placenta
19	chr12:50173400-50177000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:50174400-50209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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