Variant report

Variant	rs7509868
Chromosome Location	chr21:47058863-47058864
allele	C/G
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	MXI1	chr21:47058565-47061304	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:
2	chr21:47058472..47062802-chr21:47073375..47076804,3	MCF-7	breast:
3	chr21:47058729..47060656-chr21:47062275..47064767,2	K562	blood:
4	chr21:47057929..47060288-chr21:47187277..47188935,2	MCF-7	breast:

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12152003	0.82[EUR][1000 genomes]
rs2838970	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838971	0.93[ASN][1000 genomes]
rs2838975	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2838977	0.86[EUR][1000 genomes]
rs2877078	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3945438	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819133	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4819137	0.94[ASN][1000 genomes]
rs4819138	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819142	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7276178	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7282214	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs736063	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7410098	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs767138	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8128681	0.94[ASN][1000 genomes]
rs9653790	0.94[ASN][1000 genomes]
rs9977706	0.94[ASN][1000 genomes]
rs9978583	0.93[ASN][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	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
2	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
5	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
6	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
7	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
8	nsv914077	chr21:46998548-47091361	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
10	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
11	nsv587864	chr21:47053453-47070718	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7509868	PCBP3	cis	Artery Tibial	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr21:47056400-47063600	Weak transcription	K562	blood
3	chr21:47056600-47059600	Weak transcription	Fetal Heart	heart
4	chr21:47056600-47060000	Weak transcription	Gastric	stomach
5	chr21:47056600-47061400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
7	chr21:47056800-47059800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:47056800-47061400	Enhancers	Thymus	Thymus
9	chr21:47057000-47060200	Weak transcription	Lung	lung
10	chr21:47057200-47059200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:47057200-47059400	Weak transcription	Spleen	Spleen
12	chr21:47057200-47061400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:47058000-47060200	Enhancers	GM12878-XiMat	blood
14	chr21:47058000-47060600	Enhancers	Dnd41	blood
15	chr21:47058000-47061000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr21:47058000-47061400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr21:47058200-47059200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:47058400-47059600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:47058400-47060000	Enhancers	Primary T cells from cord blood	blood
20	chr21:47058400-47060200	Enhancers	Brain Germinal Matrix	brain
21	chr21:47058400-47061000	Enhancers	Primary hematopoietic stem cells	blood
22	chr21:47058600-47059000	Flanking Active TSS	Fetal Thymus	thymus
23	chr21:47058600-47059200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:47058600-47059600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:47058800-47059000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr21:47058800-47059000	Enhancers	NH-A	brain
27	chr21:47058800-47059200	Bivalent Enhancer	Fetal Stomach	stomach
28	chr21:47058800-47059200	Weak transcription	HSMMtube	muscle
29	chr21:47058800-47061800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:47058800-47062000	Enhancers	Primary B cells from peripheral blood	blood
31	chr21:47058800-47062200	Enhancers	Primary T helper cells PMA-I stimulated	--

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