Variant report

Variant	rs8134872
Chromosome Location	chr21:47308027-47308028
allele	C/T
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: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11089022	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11702443	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11702478	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11702552	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12626343	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12627257	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1783075	1.00[ASW][hapmap];0.87[CEU][hapmap];0.89[GIH][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap]
rs2070437	0.86[CEU][hapmap]
rs2075885	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2150452	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap]
rs2276256	1.00[YRI][hapmap]
rs2839006	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2839015	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.82[TSI][hapmap]
rs2839027	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2839028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2839034	0.91[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs2839036	0.83[ASN][1000 genomes]
rs2839042	0.87[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs2839043	0.87[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs2839045	0.90[CEU][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs2839046	0.86[CEU][hapmap]
rs2839048	0.86[CEU][hapmap]
rs2839051	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs2839052	0.86[CEU][hapmap]
rs2877119	0.96[ASN][1000 genomes]
rs373617	0.86[CEU][hapmap];0.96[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap]
rs3788219	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs381083	0.87[CEU][hapmap];0.96[GIH][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap]
rs431609	1.00[ASW][hapmap];0.82[CEU][hapmap];0.93[GIH][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap]
rs452332	0.85[CEU][hapmap]
rs4818808	0.80[ASN][1000 genomes]
rs4819145	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4819162	0.84[JPT][hapmap]
rs57691792	0.80[ASN][1000 genomes]
rs61496907	0.81[AMR][1000 genomes]
rs7276396	0.81[ASN][1000 genomes]
rs7281469	0.85[CEU][hapmap]
rs7281669	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7283763	0.86[CEU][hapmap]
rs741955	0.82[ASN][1000 genomes]
rs743352	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8128715	0.98[ASN][1000 genomes]
rs8129304	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs8130452	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914243	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs9979633	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.92[MKK][hapmap];0.85[TSI][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8134872	COL6A1	cis	cerebellum	SCAN

Chromatin state (count:46 , 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	chr21:47304000-47308400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:47304200-47313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:47304200-47313400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr21:47304400-47310200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:47304400-47310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr21:47304400-47311200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr21:47304400-47311600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr21:47304400-47311800	Enhancers	Primary T cells from cord blood	blood
11	chr21:47305000-47310000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr21:47305000-47310000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr21:47305000-47310200	Enhancers	Fetal Thymus	thymus
14	chr21:47305000-47314200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:47305800-47308800	Enhancers	Brain Hippocampus Middle	brain
16	chr21:47306200-47311600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr21:47306400-47310200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:47306400-47311600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr21:47306400-47311800	Enhancers	Fetal Muscle Leg	muscle
20	chr21:47306600-47308200	Enhancers	Brain Germinal Matrix	brain
21	chr21:47306600-47308200	Enhancers	Left Ventricle	heart
22	chr21:47306800-47308200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:47306800-47311600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr21:47307000-47311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr21:47307200-47309200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr21:47307200-47311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:47307200-47313400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr21:47307400-47308200	Enhancers	HSMM	muscle
29	chr21:47307400-47309800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:47307400-47313400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr21:47307600-47310000	Enhancers	Spleen	Spleen
32	chr21:47307600-47311400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr21:47307600-47311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:47307600-47313600	Weak transcription	NHDF-Ad	bronchial
35	chr21:47307600-47313800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr21:47307800-47310400	Enhancers	Colonic Mucosa	Colon
37	chr21:47307800-47310400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr21:47308000-47308600	Weak transcription	Thymus	Thymus
39	chr21:47308000-47309000	Weak transcription	HSMMtube	muscle
40	chr21:47308000-47309400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:47308000-47309400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr21:47308000-47309600	Weak transcription	Brain Anterior Caudate	brain
43	chr21:47308000-47310200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr21:47308000-47311600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:47308000-47312800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:47308000-47343000	Weak transcription	Right Atrium	heart

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