Variant report

Variant	rs1058694
Chromosome Location	chr21:45404120-45404121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45391227..45394196-chr21:45402468..45407272,4	K562	blood:
2	chr21:45403694..45405493-chr21:45429244..45431083,2	K562	blood:
3	chr21:45402810..45404680-chr21:45424122..45426021,2	MCF-7	breast:
4	chr21:45400381..45403322-chr21:45403855..45406530,2	K562	blood:
5	chr21:45403511..45408258-chr21:45429516..45434550,7	MCF-7	breast:
6	chr21:45402847..45404507-chr21:45421925..45424718,2	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11537799	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2070544	0.82[AMR][1000 genomes]
rs2838450	1.00[CHB][hapmap]
rs2838456	0.95[CHB][hapmap]
rs2838458	0.80[CEU][hapmap];0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs2838460	0.95[CHB][hapmap]
rs3788094	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs3788095	0.94[CHB][hapmap]
rs3827249	0.84[CHB][hapmap]
rs4819356	0.94[CHB][hapmap]
rs4819357	0.99[ASN][1000 genomes]
rs7281359	0.86[ASN][1000 genomes]
rs7435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131306	0.84[ASN][1000 genomes]
rs9647232	0.82[AMR][1000 genomes]
rs9974326	1.00[CHB][hapmap]
rs9978441	0.94[CHB][hapmap]
rs9982600	0.94[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1058694	NA	cis	multi-tissue	Pritchard

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
2	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
4	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
6	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
7	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:45392000-45406800	Weak transcription	NHEK	skin
9	chr21:45393000-45405200	Weak transcription	HepG2	liver
10	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
11	chr21:45395400-45406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:45395600-45404200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:45395800-45405000	Strong transcription	Fetal Intestine Small	intestine
14	chr21:45395800-45405400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:45395800-45405600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:45396200-45404200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr21:45396600-45404200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr21:45396600-45404200	Strong transcription	Esophagus	oesophagus
19	chr21:45396600-45404200	Strong transcription	Thymus	Thymus
20	chr21:45396600-45404400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:45396600-45404800	Strong transcription	Fetal Stomach	stomach
22	chr21:45396800-45405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:45397000-45404200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:45397200-45404200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr21:45397200-45404200	Strong transcription	Left Ventricle	heart
26	chr21:45397200-45404200	Strong transcription	Lung	lung
27	chr21:45397800-45404200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:45397800-45404200	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr21:45397800-45404600	Strong transcription	Fetal Brain Female	brain
30	chr21:45398000-45404200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr21:45398600-45404600	Weak transcription	Stomach Mucosa	stomach
32	chr21:45398800-45405000	Weak transcription	HSMM	muscle
33	chr21:45398800-45405400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:45398800-45405600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:45399200-45404200	Strong transcription	Pancreas	Pancrea
36	chr21:45399400-45404400	Strong transcription	Primary T cells from cord blood	blood
37	chr21:45399800-45404400	Weak transcription	GM12878-XiMat	blood
38	chr21:45400200-45404200	Strong transcription	Right Ventricle	heart
39	chr21:45400400-45404200	Strong transcription	Brain Hippocampus Middle	brain
40	chr21:45400600-45404200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr21:45400600-45404200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr21:45400800-45404200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr21:45401000-45404200	Strong transcription	Aorta	Aorta
44	chr21:45401000-45404200	Strong transcription	Brain Substantia Nigra	brain
45	chr21:45401000-45404200	Strong transcription	Ovary	ovary
46	chr21:45401200-45405000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr21:45401200-45405600	Weak transcription	K562	blood
48	chr21:45401200-45405600	Weak transcription	NH-A	brain
49	chr21:45402000-45404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr21:45402000-45405000	Weak transcription	H1 Cell Line	embryonic stem cell

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