Variant report

Variant	rs7410008
Chromosome Location	chr21:47055291-47055292
allele	G/T
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: 110 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1029014	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12151963	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12381207	0.98[ASN][1000 genomes]
rs12483018	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12483701	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1467758	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17004799	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1964928	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1989537	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2150460	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2183595	0.83[ASN][1000 genomes]
rs2183596	0.83[ASN][1000 genomes]
rs2183601	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838973	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838974	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838976	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838978	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838981	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838982	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838983	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838985	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838988	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838990	0.83[ASN][1000 genomes]
rs2838991	0.83[ASN][1000 genomes]
rs2838992	0.83[ASN][1000 genomes]
rs2838993	0.83[ASN][1000 genomes]
rs2838994	0.81[ASN][1000 genomes]
rs2838995	0.81[ASN][1000 genomes]
rs28625750	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28692915	0.82[EUR][1000 genomes]
rs3367	0.83[ASN][1000 genomes]
rs3920695	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4347938	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4434082	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4818795	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4818797	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4819134	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819144	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55707606	0.81[ASN][1000 genomes]
rs55912508	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55923134	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55957843	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56213918	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56288252	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56300316	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56323347	0.83[ASN][1000 genomes]
rs56378934	0.81[ASN][1000 genomes]
rs57057834	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57282159	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57328058	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57501220	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57990579	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58368336	0.85[EUR][1000 genomes]
rs58925015	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60604183	0.83[ASN][1000 genomes]
rs60988006	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61100346	0.81[ASN][1000 genomes]
rs61329313	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61540945	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62213277	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62215031	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62215035	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62215040	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62215047	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62215048	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62216072	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62216073	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66552772	0.81[ASN][1000 genomes]
rs67222545	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67565220	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs725358	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7279909	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7280055	0.98[ASN][1000 genomes]
rs7280560	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7283803	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs744506	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs767137	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8133966	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs914241	0.83[ASN][1000 genomes]
rs9306139	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9637169	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9637205	0.81[ASN][1000 genomes]
rs9637206	0.81[ASN][1000 genomes]
rs9647229	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9647230	0.83[ASN][1000 genomes]
rs9974491	0.83[ASN][1000 genomes]
rs9975404	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9976200	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9976878	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9977309	0.81[ASN][1000 genomes]
rs9978078	0.83[ASN][1000 genomes]
rs9978158	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9978882	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9981586	0.86[EUR][1000 genomes];0.87[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	esv3361506	chr21:47051224-47055822	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	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
14	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
15	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
16	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7410008	PCBP3	cis	Nerve Tibial	GTEx
rs7410008	PCBP3	cis	lung	GTEx
rs7410008	PCBP3	cis	Muscle Skeletal	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47050400-47055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47053000-47058000	Weak transcription	Dnd41	blood
6	chr21:47053200-47055400	Weak transcription	Esophagus	oesophagus
7	chr21:47053200-47055800	Weak transcription	Spleen	Spleen
8	chr21:47054400-47055400	Enhancers	Primary B cells from peripheral blood	blood
9	chr21:47054400-47056200	Enhancers	Gastric	stomach
10	chr21:47054800-47055400	Bivalent Enhancer	Fetal Brain Male	brain
11	chr21:47054800-47056000	Transcr. at gene 5' and 3'	Thymus	Thymus
12	chr21:47054800-47056600	Enhancers	Pancreas	Pancrea
13	chr21:47054800-47057200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:47055000-47055400	Enhancers	HSMMtube	muscle
15	chr21:47055000-47055600	Active TSS	Fetal Thymus	thymus
16	chr21:47055000-47056400	ZNF genes & repeats	K562	blood
17	chr21:47055000-47056600	ZNF genes & repeats	Fetal Heart	heart
18	chr21:47055000-47056600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
19	chr21:47055000-47056600	Bivalent/Poised TSS	Fetal Lung	lung
20	chr21:47055200-47055400	Active TSS	GM12878-XiMat	blood
21	chr21:47055200-47056000	Bivalent/Poised TSS	NHDF-Ad	bronchial
22	chr21:47055200-47056400	Weak transcription	HSMM	muscle

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