Variant report

Variant	rs8128434
Chromosome Location	chr21:45858206-45858207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr21:45858183-45859299	SK-N-SH	brain:	n/a	chr21:45858595-45858611 chr21:45858582-45858598 chr21:45859064-45859074

Variant related genes	Relation type
ENSG00000264452	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1573340	0.91[ASN][1000 genomes]
rs1984326	0.96[ASN][1000 genomes]
rs2838561	0.96[ASN][1000 genomes]
rs34239371	0.91[ASN][1000 genomes]
rs4818921	0.96[ASN][1000 genomes]
rs4818922	0.81[ASN][1000 genomes]
rs4818925	0.90[ASN][1000 genomes]
rs6518188	0.96[ASN][1000 genomes]
rs6518189	0.96[ASN][1000 genomes]
rs762430	0.96[ASN][1000 genomes]
rs8131919	0.86[EUR][1000 genomes]
rs915781	0.96[ASN][1000 genomes]
rs9306103	0.90[ASN][1000 genomes]
rs9306104	0.96[ASN][1000 genomes]
rs9981271	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv913929	chr21:45700641-45860912	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
8	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv913937	chr21:45709153-45865167	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
10	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
11	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
13	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
16	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
17	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
18	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
19	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
20	nsv587781	chr21:45764397-45867471	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv913945	chr21:45837433-45893907	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
25	nsv913947	chr21:45852949-45885589	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45815800-45874800	Weak transcription	Right Atrium	heart
2	chr21:45820000-45863400	Weak transcription	Primary T cells from cord blood	blood
3	chr21:45839800-45860600	Weak transcription	Thymus	Thymus
4	chr21:45839800-45866200	Weak transcription	Brain Angular Gyrus	brain
5	chr21:45848800-45858400	Weak transcription	Pancreas	Pancrea
6	chr21:45849000-45858800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:45851000-45864200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:45851200-45863200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr21:45851400-45863800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr21:45853600-45865000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr21:45853800-45863200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:45853800-45863800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:45854200-45858600	Weak transcription	Esophagus	oesophagus
14	chr21:45854200-45862400	Strong transcription	Spleen	Spleen
15	chr21:45854800-45862200	Weak transcription	Lung	lung
16	chr21:45855400-45861200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr21:45856200-45860400	Weak transcription	Placenta	Placenta
18	chr21:45856800-45859000	Enhancers	Colon Smooth Muscle	Colon
19	chr21:45856800-45859800	Enhancers	Fetal Heart	heart
20	chr21:45856800-45868400	Weak transcription	Fetal Intestine Small	intestine
21	chr21:45857000-45859400	Enhancers	Right Ventricle	heart
22	chr21:45857200-45858800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr21:45857600-45859200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr21:45857600-45859200	Enhancers	Left Ventricle	heart
25	chr21:45857600-45859400	Enhancers	Gastric	stomach
26	chr21:45857600-45859400	Enhancers	Stomach Mucosa	stomach
27	chr21:45857600-45859600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:45857600-45865200	Weak transcription	Brain Anterior Caudate	brain
29	chr21:45857800-45859600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr21:45858000-45858800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:45858000-45860200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:45858000-45863400	Weak transcription	Adipose Nuclei	Adipose
33	chr21:45858200-45858400	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr21:45858200-45858400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr21:45858200-45858400	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr21:45858200-45858600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr21:45858200-45859000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr21:45858200-45859400	Enhancers	Liver	Liver
39	chr21:45858200-45859400	Enhancers	Colonic Mucosa	Colon
40	chr21:45858200-45859400	Enhancers	HSMMtube	muscle
41	chr21:45858200-45862000	Weak transcription	Brain Inferior Temporal Lobe	brain

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