Variant report

Variant	rs12483723
Chromosome Location	chr21:46506784-46506785
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46505531..46507502-chr21:46545208..46547761,2	MCF-7	breast:
2	chr21:46493525..46497229-chr21:46506258..46510035,5	MCF-7	breast:
3	chr21:46499894..46505152-chr21:46506062..46510299,9	MCF-7	breast:
4	chr21:46504412..46507168-chr21:46508200..46509950,2	K562	blood:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000235374	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12481846	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12481951	1.00[EUR][1000 genomes]
rs12482292	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482296	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482344	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482351	1.00[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	1.00[CEU][hapmap];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]
rs17004727	1.00[CEU][hapmap]
rs4819016	1.00[CEU][hapmap]
rs4819018	1.00[CEU][hapmap]

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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46496200-46511600	Weak transcription	Fetal Intestine Small	intestine
2	chr21:46496400-46509000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr21:46496400-46509000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr21:46496400-46511400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr21:46496400-46511400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:46496400-46513000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr21:46496600-46511600	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:46496600-46512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:46496600-46516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:46497600-46509200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr21:46498000-46509200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:46498600-46513000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:46499000-46522200	Weak transcription	NHDF-Ad	bronchial
14	chr21:46499800-46507000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:46499800-46509200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr21:46499800-46510400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr21:46500000-46506800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr21:46500000-46522200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:46500800-46508800	Weak transcription	Fetal Brain Female	brain
20	chr21:46501000-46506800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr21:46501000-46509000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:46501200-46508600	Strong transcription	Hela-S3	cervix
23	chr21:46501600-46508200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:46501600-46511200	Weak transcription	Fetal Heart	heart
25	chr21:46501600-46511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr21:46501600-46513000	Weak transcription	Brain Anterior Caudate	brain
27	chr21:46501800-46507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:46501800-46509000	Weak transcription	NHLF	lung
29	chr21:46501800-46511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:46502000-46507200	Weak transcription	Esophagus	oesophagus
31	chr21:46502000-46511400	Weak transcription	Gastric	stomach
32	chr21:46502000-46515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:46502000-46516000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr21:46502600-46508800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:46502600-46509000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr21:46502600-46511400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:46502800-46507600	Enhancers	Left Ventricle	heart
38	chr21:46502800-46509400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr21:46503000-46511200	Weak transcription	HSMMtube	muscle
40	chr21:46503000-46511400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr21:46503000-46522200	Weak transcription	Brain Angular Gyrus	brain
42	chr21:46503200-46511400	Weak transcription	Osteobl	bone
43	chr21:46503200-46516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:46503200-46516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr21:46503800-46507000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr21:46503800-46507000	Enhancers	Dnd41	blood
47	chr21:46503800-46513000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:46504200-46508400	Enhancers	Primary B cells from peripheral blood	blood
49	chr21:46504400-46507000	Enhancers	Stomach Smooth Muscle	stomach
50	chr21:46504400-46507200	Weak transcription	Aorta	Aorta

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