Variant report

Variant	rs2015400
Chromosome Location	chr21:47308623-47308624
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	chr21:47307528..47310993-chr21:47318183..47321905,4	K562	blood:

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2277814	0.80[CEU][hapmap]
rs2330328	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2839008	0.93[CEU][hapmap]
rs2839023	0.84[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.82[ASN][1000 genomes]
rs2839024	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.84[ASN][1000 genomes]
rs2839025	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs28478132	0.82[ASN][1000 genomes]
rs393067	0.86[JPT][hapmap]
rs406179	0.86[JPT][hapmap]
rs438651	0.86[JPT][hapmap]
rs4818806	0.86[EUR][1000 genomes]
rs4818807	0.84[EUR][1000 genomes]
rs4819142	0.86[JPT][hapmap]
rs4819158	0.82[ASN][1000 genomes]
rs4819160	0.93[CEU][hapmap]
rs725930	0.93[CEU][hapmap]
rs7280089	0.93[CEU][hapmap]
rs741954	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs743351	0.84[ASN][1000 genomes]
rs8133338	0.93[CEU][hapmap]
rs873991	0.80[ASN][1000 genomes]
rs9977594	0.93[CEU][hapmap]
rs9984438	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
12	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
15	nsv914080	chr21:47265786-47311686	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	nsv914081	chr21:47265786-47320805	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
17	nsv914082	chr21:47265786-47338007	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
18	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
19	nsv914084	chr21:47288453-47326666	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
20	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
21	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2015400	PCBP3	cis	cerebellum	SCAN
rs2015400	KRTAP10-5	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47295600-47309200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:47303800-47313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr21:47304200-47313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:47304200-47313400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr21:47304400-47310200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:47304400-47310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr21:47304400-47311200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr21:47304400-47311600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr21:47304400-47311800	Enhancers	Primary T cells from cord blood	blood
10	chr21:47305000-47310000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr21:47305000-47310000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:47305000-47310200	Enhancers	Fetal Thymus	thymus
13	chr21:47305000-47314200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr21:47305800-47308800	Enhancers	Brain Hippocampus Middle	brain
15	chr21:47306200-47311600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr21:47306400-47310200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:47306400-47311600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr21:47306400-47311800	Enhancers	Fetal Muscle Leg	muscle
19	chr21:47306800-47311600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr21:47307000-47311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr21:47307200-47309200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:47307200-47311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:47307200-47313400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr21:47307400-47309800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:47307400-47313400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr21:47307600-47310000	Enhancers	Spleen	Spleen
27	chr21:47307600-47311400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr21:47307600-47311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr21:47307600-47313600	Weak transcription	NHDF-Ad	bronchial
30	chr21:47307600-47313800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr21:47307800-47310400	Enhancers	Colonic Mucosa	Colon
32	chr21:47307800-47310400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr21:47308000-47309000	Weak transcription	HSMMtube	muscle
34	chr21:47308000-47309400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:47308000-47309400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr21:47308000-47309600	Weak transcription	Brain Anterior Caudate	brain
37	chr21:47308000-47310200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr21:47308000-47311600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:47308000-47312800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
41	chr21:47308200-47309200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:47308200-47309400	Weak transcription	Brain Germinal Matrix	brain
43	chr21:47308200-47309400	Weak transcription	HSMM	muscle
44	chr21:47308200-47314000	Weak transcription	Left Ventricle	heart
45	chr21:47308400-47309000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr21:47308400-47310000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr21:47308600-47309600	Enhancers	Thymus	Thymus

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