Variant report

Variant	rs4817978
Chromosome Location	chr21:40355786-40355787
allele	C/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	chr21:40347269..40350554-chr21:40353946..40356975,3	K562	blood:
3	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000232837	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2836806	0.94[ASN][1000 genomes]
rs2836807	0.94[ASN][1000 genomes]
rs2836808	0.93[ASN][1000 genomes]
rs28673525	0.90[ASN][1000 genomes]
rs4817979	0.82[ASN][1000 genomes]
rs58301407	0.90[ASN][1000 genomes]
rs60329156	0.90[ASN][1000 genomes]
rs60789326	0.91[ASN][1000 genomes]
rs9976408	0.94[ASN][1000 genomes]
rs9978603	0.90[ASN][1000 genomes]
rs9985005	0.93[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40332000-40356800	Weak transcription	Right Atrium	heart
2	chr21:40350400-40356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:40351000-40359600	Enhancers	Primary hematopoietic stem cells	blood
4	chr21:40351600-40356000	Weak transcription	Esophagus	oesophagus
5	chr21:40351600-40357200	Weak transcription	Lung	lung
6	chr21:40351800-40356000	Weak transcription	HMEC	breast
7	chr21:40352000-40356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:40352000-40356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:40352000-40356600	Weak transcription	NHEK	skin
10	chr21:40352400-40370000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:40353000-40356000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr21:40353200-40356800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr21:40353400-40356000	Weak transcription	Spleen	Spleen
14	chr21:40353400-40356200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr21:40353600-40355800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:40353600-40359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:40353800-40356000	Weak transcription	Thymus	Thymus
18	chr21:40353800-40356000	Enhancers	Dnd41	blood
19	chr21:40353800-40358400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:40354000-40355800	Weak transcription	HSMMtube	muscle
21	chr21:40354000-40359400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:40354200-40355800	Weak transcription	Fetal Heart	heart
23	chr21:40354400-40356200	Weak transcription	Fetal Lung	lung
24	chr21:40354400-40356600	Weak transcription	NH-A	brain
25	chr21:40354400-40358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:40354600-40356000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:40354600-40356000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr21:40354600-40356000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr21:40354600-40356000	Weak transcription	Fetal Thymus	thymus
30	chr21:40354600-40356600	Weak transcription	Fetal Kidney	kidney
31	chr21:40354600-40356800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr21:40354600-40357400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:40354600-40359000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr21:40354600-40359200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr21:40354600-40359400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr21:40354600-40359400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:40354600-40364600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr21:40354800-40355800	Weak transcription	Fetal Muscle Leg	muscle
39	chr21:40354800-40356800	Weak transcription	Placenta	Placenta
40	chr21:40354800-40359200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:40354800-40359400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr21:40355000-40355800	Weak transcription	HepG2	liver
43	chr21:40355000-40359000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr21:40355200-40356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:40355200-40359600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr21:40355600-40356200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:40355600-40356800	Enhancers	Skeletal Muscle Female	skeletal muscle

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