Variant report

Variant	rs8134059
Chromosome Location	chr21:40357382-40357383
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40338908..40342135-chr21:40355414..40359541,3	K562	blood:
2	chr21:40177341..40179310-chr21:40356507..40359292,3	K562	blood:
3	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:
4	chr21:40356286..40358382-chr21:40363129..40364853,2	K562	blood:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11088460	1.00[EUR][1000 genomes]
rs11088461	1.00[EUR][1000 genomes]
rs2410071	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2410072	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2410074	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2410075	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2836809	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836810	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59075807	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61018306	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs732339	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs732340	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73906720	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8126897	1.00[EUR][1000 genomes]
rs881558	1.00[EUR][1000 genomes]
rs9636952	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs973192	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs973193	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40351000-40359600	Enhancers	Primary hematopoietic stem cells	blood
2	chr21:40352400-40370000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:40353600-40359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:40353800-40358400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:40354000-40359400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:40354400-40358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:40354600-40357400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr21:40354600-40359000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr21:40354600-40359200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr21:40354600-40359400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:40354600-40359400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:40354600-40364600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:40354800-40359200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:40354800-40359400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr21:40355000-40359000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:40355200-40359600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:40355800-40358400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:40355800-40358800	Enhancers	Fetal Heart	heart
19	chr21:40355800-40359200	Enhancers	HSMM	muscle
20	chr21:40355800-40360000	Enhancers	HSMMtube	muscle
21	chr21:40355800-40360400	Enhancers	Fetal Muscle Leg	muscle
22	chr21:40356000-40357600	Enhancers	NHLF	lung
23	chr21:40356000-40357800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:40356000-40358000	Enhancers	Fetal Muscle Trunk	muscle
25	chr21:40356000-40358000	Enhancers	Fetal Thymus	thymus
26	chr21:40356000-40358200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:40356000-40358200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr21:40356000-40358200	Enhancers	Esophagus	oesophagus
29	chr21:40356000-40358600	Enhancers	Spleen	Spleen
30	chr21:40356000-40358600	Flanking Active TSS	Dnd41	blood
31	chr21:40356000-40358600	Enhancers	HMEC	breast
32	chr21:40356000-40358800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:40356000-40369400	Enhancers	Left Ventricle	heart
34	chr21:40356200-40357600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:40356200-40357600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr21:40356200-40357800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:40356200-40358000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr21:40356200-40358400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:40356200-40359400	Enhancers	Fetal Lung	lung
40	chr21:40356200-40361600	Enhancers	Fetal Stomach	stomach
41	chr21:40356600-40357400	Enhancers	NHEK	skin
42	chr21:40356600-40358200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr21:40356600-40358200	Enhancers	NH-A	brain
44	chr21:40356600-40358600	Enhancers	Rectal Smooth Muscle	rectum
45	chr21:40356600-40358800	Bivalent Enhancer	Adipose Nuclei	Adipose
46	chr21:40356600-40361200	Enhancers	Fetal Kidney	kidney
47	chr21:40356800-40357400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr21:40356800-40357400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr21:40356800-40357400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
50	chr21:40356800-40357400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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