Variant report

Variant	rs12106483
Chromosome Location	chr21:45000544-45000545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44995436..44998178-chr21:44998491..45000722,2	K562	blood:
2	chr21:45000029..45003162-chr21:45004279..45008488,5	MCF-7	breast:
3	chr21:44999342..45002194-chr21:45002710..45005650,3	K562	blood:
4	chr21:44997574..45001313-chr21:45028086..45031280,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11909059	1.00[AMR][1000 genomes]
rs11909573	1.00[AMR][1000 genomes]
rs11909727	1.00[AMR][1000 genomes]
rs11910571	1.00[AMR][1000 genomes]
rs11910887	1.00[AMR][1000 genomes]
rs11911756	1.00[AMR][1000 genomes]
rs34329830	1.00[AMR][1000 genomes]
rs34480572	1.00[AMR][1000 genomes]
rs34486226	1.00[AMR][1000 genomes]
rs34717646	1.00[AMR][1000 genomes]
rs35185076	1.00[AMR][1000 genomes]
rs35493534	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
11	esv1830550	chr21:44999967-45003980	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44987200-45005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:44987200-45005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:44992400-45004200	Weak transcription	Right Atrium	heart
4	chr21:44995000-45002000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:44995000-45005400	Weak transcription	Ovary	ovary
6	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
7	chr21:44995200-45001600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:44995200-45001600	Weak transcription	Lung	lung
9	chr21:44995200-45006000	Weak transcription	Spleen	Spleen
10	chr21:44995400-45001600	Weak transcription	Placenta	Placenta
11	chr21:44996200-45005800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr21:44998200-45001800	Enhancers	Fetal Lung	lung
13	chr21:44998200-45002400	Enhancers	Fetal Stomach	stomach
14	chr21:44998600-45006000	Weak transcription	Gastric	stomach
15	chr21:44998800-45001400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:44998800-45001600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr21:44999200-45005800	Weak transcription	Stomach Mucosa	stomach
18	chr21:44999600-45001400	Weak transcription	Fetal Muscle Leg	muscle
19	chr21:44999600-45005000	Weak transcription	HSMM	muscle
20	chr21:44999600-45005800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:45000000-45004600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:45000000-45005000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr21:45000000-45005200	Weak transcription	HSMMtube	muscle
24	chr21:45000400-45005200	Weak transcription	Pancreas	Pancrea

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