Variant report

Variant	rs4819339
Chromosome Location	chr21:45314489-45314490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45313419..45315181-chr21:45337609..45339759,2	K562	blood:
2	chr21:45313485..45315403-chr21:45358568..45360519,2	K562	blood:
3	chr21:45307015..45310444-chr21:45311677..45314672,3	MCF-7	breast:
4	chr21:45311589..45314501-chr21:45483569..45485379,2	MCF-7	breast:
5	chr21:45310037..45311545-chr21:45312305..45314551,2	K562	blood:
6	chr21:45282739..45287781-chr21:45311516..45318089,9	K562	blood:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11700575	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2838433	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2838434	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3788075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4819337	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819338	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819341	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55939443	0.83[ASN][1000 genomes]
rs58565118	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59355960	0.92[AMR][1000 genomes]
rs60216010	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60316193	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7278539	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73226931	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9647250	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9976132	0.81[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	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
2	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr21:45300600-45316400	Weak transcription	A549	lung
4	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:45301400-45326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:45303400-45319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:45304800-45322200	Weak transcription	Hela-S3	cervix
8	chr21:45304800-45323200	Weak transcription	Colonic Mucosa	Colon
9	chr21:45305000-45322800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr21:45305000-45328000	Weak transcription	NHEK	skin
11	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
12	chr21:45305200-45319400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:45305200-45323000	Weak transcription	Fetal Heart	heart
14	chr21:45305200-45323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:45305200-45327600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:45305800-45320200	Weak transcription	Brain Anterior Caudate	brain
17	chr21:45305800-45323000	Weak transcription	Brain Angular Gyrus	brain
18	chr21:45306000-45318800	Weak transcription	HepG2	liver
19	chr21:45306000-45320200	Weak transcription	Pancreas	Pancrea
20	chr21:45306000-45322400	Weak transcription	Esophagus	oesophagus
21	chr21:45306000-45323200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr21:45306200-45323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr21:45307000-45323400	Weak transcription	Brain Hippocampus Middle	brain
24	chr21:45309800-45330600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:45311200-45318200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:45311200-45318200	Weak transcription	Dnd41	blood
27	chr21:45312400-45314800	Enhancers	Stomach Mucosa	stomach
28	chr21:45312400-45319400	Weak transcription	Brain Germinal Matrix	brain
29	chr21:45312600-45314600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr21:45312600-45318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:45312600-45319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr21:45312800-45314600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:45312800-45314600	Enhancers	Adipose Nuclei	Adipose
34	chr21:45312800-45316200	Enhancers	Fetal Intestine Large	intestine
35	chr21:45312800-45319000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr21:45312800-45319200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr21:45313000-45314800	Enhancers	Liver	Liver
38	chr21:45313000-45317400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:45313000-45318800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:45313000-45319000	Weak transcription	Aorta	Aorta
41	chr21:45313000-45320600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr21:45313200-45317400	Weak transcription	Fetal Stomach	stomach
43	chr21:45313400-45314800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:45313400-45314800	Flanking Active TSS	HUVEC	blood vessel
45	chr21:45313600-45317400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr21:45313600-45318200	Weak transcription	Fetal Muscle Leg	muscle
47	chr21:45313600-45318800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr21:45313800-45314600	Weak transcription	Small Intestine	intestine
49	chr21:45313800-45314800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr21:45313800-45314800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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