Variant report

Variant	rs62226936
Chromosome Location	chr21:45081818-45081819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45081810-45082373	HepG2	liver:	n/a	n/a
2	SPI1	chr21:45081614-45081903	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44922604..44925012-chr21:45081747..45084022,2	MCF-7	breast:
2	chr21:45081592..45084345-chr21:45095328..45097020,2	MCF-7	breast:
3	chr21:44526005..44528845-chr21:45081704..45083461,2	K562	blood:
4	chr21:45080065..45081996-chr21:45387843..45390331,2	K562	blood:
5	chr21:45079804..45082732-chr21:45140851..45143406,2	MCF-7	breast:
6	chr21:45079841..45084102-chr21:45134985..45140333,7	K562	blood:

No data

Variant related genes	Relation type
HSF2BP	TF binding region
ENSG00000160209	Chromatin interaction
ENSG00000160201	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11908893	0.83[AMR][1000 genomes]
rs11909619	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11911560	0.83[AMR][1000 genomes]
rs17004588	0.83[AMR][1000 genomes]
rs17004600	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17004601	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17004602	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17004604	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61733779	0.97[AFR][1000 genomes];0.83[AMR][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	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080200-45089800	Weak transcription	Aorta	Aorta
2	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45080800-45082000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:45080800-45082000	Enhancers	Fetal Kidney	kidney
5	chr21:45080800-45082200	Weak transcription	Colonic Mucosa	Colon
6	chr21:45080800-45082400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:45080800-45083000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr21:45080800-45084200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:45080800-45084400	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:45080800-45084800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:45080800-45084800	Weak transcription	Brain Angular Gyrus	brain
12	chr21:45080800-45084800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr21:45080800-45085400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr21:45080800-45085600	Weak transcription	Right Ventricle	heart
15	chr21:45080800-45085600	Weak transcription	Stomach Mucosa	stomach
16	chr21:45080800-45087000	Weak transcription	Osteobl	bone
17	chr21:45080800-45089200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:45080800-45089400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr21:45080800-45092000	Weak transcription	Esophagus	oesophagus
20	chr21:45080800-45094600	Weak transcription	NHLF	lung
21	chr21:45080800-45094800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr21:45080800-45094800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:45080800-45096200	Weak transcription	Psoas Muscle	Psoas
24	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
25	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
26	chr21:45081000-45082000	Transcr. at gene 5' and 3'	Dnd41	blood
27	chr21:45081000-45082400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr21:45081000-45082600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:45081000-45083600	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr21:45081000-45089800	Weak transcription	NH-A	brain
31	chr21:45081200-45082000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:45081200-45082000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr21:45081200-45082000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr21:45081200-45082200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr21:45081200-45082200	Genic enhancers	Lung	lung
36	chr21:45081200-45082800	Genic enhancers	Primary T cells from cord blood	blood
37	chr21:45081200-45083200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr21:45081200-45083400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr21:45081200-45083400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr21:45081200-45085600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:45081200-45085800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr21:45081200-45085800	Weak transcription	Colon Smooth Muscle	Colon
43	chr21:45081200-45089200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr21:45081200-45096400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr21:45081400-45082000	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr21:45081400-45082000	Genic enhancers	A549	lung
47	chr21:45081400-45082000	Genic enhancers	HSMM	muscle
48	chr21:45081400-45082200	Genic enhancers	K562	blood
49	chr21:45081400-45082400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr21:45081400-45082400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood

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