Variant report

Variant	rs2838454
Chromosome Location	chr21:45389348-45389349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45389100-45389352	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45389343..45390928-chr21:45392630..45394554,2	K562	blood:
2	chr21:45378287..45380290-chr21:45386903..45389451,3	K562	blood:
3	chr21:45080065..45081996-chr21:45387843..45390331,2	K562	blood:
4	chr21:45366021..45369525-chr21:45388691..45391384,4	K562	blood:
5	chr21:45376773..45380290-chr21:45386795..45390275,5	K562	blood:
6	chr21:45388404..45390928-chr21:45391269..45394554,3	K562	blood:
7	chr21:45363094..45365051-chr21:45388875..45391013,2	MCF-7	breast:
8	chr21:45388564..45390911-chr21:45397082..45399492,2	K562	blood:
9	chr21:45388765..45391178-chr21:45475635..45477292,2	K562	blood:

No data

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11537798	0.86[EUR][1000 genomes]
rs11911398	0.86[EUR][1000 genomes]
rs17004619	0.86[EUR][1000 genomes]
rs2000787	0.93[ASN][1000 genomes]
rs2838452	0.96[ASN][1000 genomes]
rs2838453	0.96[ASN][1000 genomes]
rs2838457	0.87[EUR][1000 genomes]
rs2838461	0.86[EUR][1000 genomes]
rs3737358	0.88[ASN][1000 genomes]
rs6518340	0.93[ASN][1000 genomes]
rs6518342	0.96[ASN][1000 genomes]
rs7276691	0.96[ASN][1000 genomes]
rs7281203	0.96[ASN][1000 genomes]
rs73373134	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73373146	0.86[EUR][1000 genomes]
rs73373152	0.82[EUR][1000 genomes]
rs73906692	0.97[EUR][1000 genomes]
rs73906701	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45370000-45390200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
3	chr21:45374400-45392400	Weak transcription	Stomach Mucosa	stomach
4	chr21:45375200-45395400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:45377000-45398400	Weak transcription	A549	lung
6	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr21:45378000-45390200	Weak transcription	Primary B cells from cord blood	blood
8	chr21:45378200-45395000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr21:45378200-45403800	Strong transcription	Dnd41	blood
10	chr21:45378400-45395000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr21:45378600-45392800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:45378600-45394800	Weak transcription	Fetal Brain Male	brain
13	chr21:45378600-45400800	Weak transcription	NH-A	brain
14	chr21:45378800-45395000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
16	chr21:45379000-45392400	Strong transcription	Fetal Stomach	stomach
17	chr21:45379000-45393400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
20	chr21:45380200-45395000	Weak transcription	HMEC	breast
21	chr21:45380400-45391800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr21:45381600-45390400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:45381600-45392200	Weak transcription	HSMM	muscle
25	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:45381800-45390200	Weak transcription	Brain Anterior Caudate	brain
27	chr21:45381800-45391200	Weak transcription	Fetal Lung	lung
28	chr21:45381800-45391200	Weak transcription	NHEK	skin
29	chr21:45381800-45395000	Weak transcription	Fetal Kidney	kidney
30	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
31	chr21:45382800-45390400	Weak transcription	HSMMtube	muscle
32	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
34	chr21:45383400-45398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
36	chr21:45384200-45390400	Strong transcription	Liver	Liver
37	chr21:45384200-45393200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr21:45384200-45393800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr21:45384600-45392600	Strong transcription	Gastric	stomach
40	chr21:45384600-45393000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:45384600-45393200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr21:45384600-45393200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr21:45384600-45393400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr21:45384600-45393800	Strong transcription	Fetal Intestine Large	intestine
45	chr21:45384800-45392400	Strong transcription	Lung	lung
46	chr21:45384800-45393800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:45385000-45391200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr21:45385000-45393600	Strong transcription	Adipose Nuclei	Adipose
49	chr21:45385000-45393800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:45385000-45393800	Strong transcription	Thymus	Thymus

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