Variant report

Variant	rs7276178
Chromosome Location	chr21:47056870-47056871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:
2	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12152003	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2838970	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838971	0.96[ASN][1000 genomes]
rs2838975	0.90[EUR][1000 genomes]
rs2838977	0.87[EUR][1000 genomes]
rs2877078	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3945438	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4819133	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819137	0.98[ASN][1000 genomes]
rs4819138	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819142	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56322208	0.83[ASN][1000 genomes]
rs7282214	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736063	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7410098	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7509868	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs767138	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8128681	0.98[ASN][1000 genomes]
rs9653790	0.98[ASN][1000 genomes]
rs9977706	0.98[ASN][1000 genomes]
rs9978583	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	esv3405686	chr21:47050724-47057922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv3415750	chr21:47052324-47057922	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv14100	chr21:47053051-47056946	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	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
15	esv3412278	chr21:47053724-47057822	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv3358497	chr21:47055574-47058372	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7276178	PCBP3	cis	Artery Tibial	GTEx

Chromatin state (count:23 , 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	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
4	chr21:47053000-47058000	Weak transcription	Dnd41	blood
5	chr21:47054800-47057200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:47055400-47057000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:47055400-47058000	Weak transcription	GM12878-XiMat	blood
8	chr21:47055400-47058600	Weak transcription	HSMMtube	muscle
9	chr21:47055400-47058800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr21:47055800-47058600	Enhancers	Fetal Thymus	thymus
11	chr21:47056000-47057000	Genic enhancers	Spleen	Spleen
12	chr21:47056200-47057000	ZNF genes & repeats	Lung	lung
13	chr21:47056400-47058000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:47056400-47063600	Weak transcription	K562	blood
15	chr21:47056600-47057200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:47056600-47057200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr21:47056600-47059600	Weak transcription	Fetal Heart	heart
18	chr21:47056600-47060000	Weak transcription	Gastric	stomach
19	chr21:47056600-47061400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
21	chr21:47056800-47057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:47056800-47059800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:47056800-47061400	Enhancers	Thymus	Thymus

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