Variant report

Variant	rs1444274
Chromosome Location	chr21:28220167-28220168
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	chr21:26978263..26981147-chr21:28218425..28221090,2	K562	blood:

Variant related genes	Relation type
ENSG00000154719	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10460698	0.81[ASN][1000 genomes]
rs10470139	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11910373	0.81[ASN][1000 genomes]
rs1475583	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1475584	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2830553	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67979457	0.83[ASN][1000 genomes]
rs9305292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9305293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9976037	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9976082	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9981017	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9981095	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9981200	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9981427	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv3482	chr21:28191297-28221975	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28219000-28221600	Weak transcription	Hela-S3	cervix
2	chr21:28219200-28223000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:28219400-28221600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr21:28219400-28221600	Weak transcription	Colon Smooth Muscle	Colon
5	chr21:28219400-28223400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:28219400-28224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:28219400-28229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:28219600-28220200	Enhancers	Brain Angular Gyrus	brain
9	chr21:28219600-28220200	Enhancers	Brain Cingulate Gyrus	brain
10	chr21:28219600-28220200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr21:28219600-28220200	Enhancers	Brain Substantia Nigra	brain
12	chr21:28219600-28220200	Enhancers	Fetal Muscle Leg	muscle
13	chr21:28219600-28221600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:28219600-28221600	Weak transcription	HSMM	muscle
15	chr21:28219600-28221600	Weak transcription	NHLF	lung
16	chr21:28219600-28222000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:28219600-28222000	Weak transcription	Liver	Liver
18	chr21:28219600-28222200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:28219600-28223000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:28219600-28223200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:28219600-28223400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:28219600-28223400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:28219600-28223400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:28219600-28223400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr21:28219800-28220200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr21:28219800-28220200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr21:28219800-28220200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr21:28219800-28220600	Enhancers	Fetal Stomach	stomach
29	chr21:28219800-28221400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr21:28219800-28221400	Weak transcription	Fetal Lung	lung
31	chr21:28219800-28221600	Weak transcription	Fetal Intestine Small	intestine
32	chr21:28219800-28222000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:28219800-28222000	Enhancers	Brain Hippocampus Middle	brain
34	chr21:28219800-28222000	Weak transcription	Osteobl	bone
35	chr21:28219800-28222600	Weak transcription	Fetal Kidney	kidney
36	chr21:28219800-28223600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:28220000-28220400	Weak transcription	Brain Anterior Caudate	brain
38	chr21:28220000-28221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:28220000-28221600	Weak transcription	NHDF-Ad	bronchial
40	chr21:28220000-28222200	Weak transcription	Fetal Intestine Large	intestine
41	chr21:28220000-28222200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:28220000-28222400	Enhancers	Dnd41	blood

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