Variant report

Variant	rs878132
Chromosome Location	chr21:45418327-45418328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr21:45418272-45418506	GM12878	blood:	n/a	n/a
2	FOS	chr21:45418297-45418570	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr21:45418316-45418497	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45416541..45418869-chr21:45429410..45432028,3	K562	blood:
2	chr21:45416695..45418869-chr21:45430273..45432028,2	K562	blood:
3	chr21:45406262..45409229-chr21:45418247..45420047,2	K562	blood:

Variant related genes	Relation type
RNU6-1150P	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1005045	1.00[JPT][hapmap]
rs11910604	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2020943	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2071144	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2227265	1.00[JPT][hapmap]
rs2838448	0.85[CHB][hapmap]
rs2838459	0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs2838463	0.85[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2838465	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2838470	0.90[JPT][hapmap]
rs2838479	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2838484	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2838487	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2838495	1.00[JPT][hapmap]
rs2838497	1.00[JPT][hapmap]
rs2838510	1.00[JPT][hapmap]
rs57913591	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59957868	0.87[ASN][1000 genomes]
rs73906694	1.00[EUR][1000 genomes]
rs73906696	1.00[EUR][1000 genomes]
rs8128926	1.00[JPT][hapmap]
rs8129146	1.00[CHB][hapmap]
rs9284512	1.00[JPT][hapmap]
rs9680153	1.00[EUR][1000 genomes]
rs9976939	1.00[EUR][1000 genomes]
rs9978109	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs9978334	1.00[EUR][1000 genomes]
rs9978772	1.00[JPT][hapmap]
rs9979931	1.00[JPT][hapmap]
rs9980063	1.00[JPT][hapmap]
rs9982148	1.00[TSI][hapmap]
rs9982695	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs878132	PTTG1IP	cis	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
2	chr21:45414000-45419200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:45414400-45418800	Weak transcription	Brain Substantia Nigra	brain
4	chr21:45414400-45419000	Weak transcription	Brain Angular Gyrus	brain
5	chr21:45414400-45419000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:45414400-45420800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:45416000-45418400	Weak transcription	HSMMtube	muscle
8	chr21:45418000-45418400	Enhancers	NH-A	brain
9	chr21:45418200-45418400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:45418200-45418400	Enhancers	HSMM	muscle
11	chr21:45418200-45421800	Enhancers	Brain Hippocampus Middle	brain

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