Variant report

Variant	rs12482351
Chromosome Location	chr21:46525310-46525311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46221400..46223268-chr21:46524948..46526484,2	MCF-7	breast:
2	chr21:46524740..46528756-chr21:46537470..46542914,5	K562	blood:
3	chr21:46523822..46526157-chr21:46543907..46545528,2	MCF-7	breast:
4	chr21:46493396..46496965-chr21:46524044..46525744,3	MCF-7	breast:
5	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12481846	1.00[EUR][1000 genomes]
rs12481951	1.00[EUR][1000 genomes]
rs12482292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482344	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482981	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46512200-46525600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46516400-46525600	Weak transcription	K562	blood
4	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:46519400-46526800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:46520400-46525400	Weak transcription	Fetal Brain Female	brain
7	chr21:46521200-46527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr21:46521200-46528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46521400-46526400	Enhancers	Adipose Nuclei	Adipose
10	chr21:46521600-46526400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:46521600-46526800	Genic enhancers	HSMM	muscle
12	chr21:46521800-46526600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr21:46521800-46526800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr21:46522000-46526400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr21:46522000-46527000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:46522200-46527200	Enhancers	Colon Smooth Muscle	Colon
17	chr21:46522400-46525600	Weak transcription	Osteobl	bone
18	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr21:46522800-46529600	Weak transcription	NH-A	brain
20	chr21:46523000-46525600	Weak transcription	Brain Angular Gyrus	brain
21	chr21:46523000-46525600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:46523000-46526200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:46523000-46529200	Weak transcription	Colonic Mucosa	Colon
24	chr21:46523000-46529400	Weak transcription	NHLF	lung
25	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:46523200-46525600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr21:46523200-46529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:46523400-46525800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr21:46523400-46526800	Enhancers	Fetal Heart	heart
31	chr21:46523400-46527000	Enhancers	Primary T cells from cord blood	blood
32	chr21:46523600-46526200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr21:46523600-46526800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr21:46523800-46526000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr21:46523800-46527000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:46524000-46525400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr21:46524000-46526400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:46524000-46527200	Enhancers	HSMMtube	muscle
39	chr21:46524200-46527000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:46524400-46525800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:46524400-46526000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr21:46524400-46526600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr21:46524600-46525600	Weak transcription	Brain Substantia Nigra	brain
44	chr21:46524600-46525800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr21:46524600-46525800	Weak transcription	Fetal Intestine Small	intestine
46	chr21:46524600-46528800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr21:46524600-46529200	Enhancers	Primary B cells from cord blood	blood
48	chr21:46524800-46525600	Weak transcription	Brain Anterior Caudate	brain
49	chr21:46524800-46525600	Weak transcription	Fetal Lung	lung
50	chr21:46524800-46525800	Weak transcription	Dnd41	blood

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