Variant report

Variant	rs7283145
Chromosome Location	chr21:17587049-17587050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11088577	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1492953	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1619989	0.83[AMR][1000 genomes]
rs190229	0.84[AMR][1000 genomes]
rs2156360	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs239003	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs239006	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2639700	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823638	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823646	0.81[AMR][1000 genomes]
rs2823650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823651	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823653	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823659	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823660	0.95[ASN][1000 genomes]
rs2823661	0.90[ASN][1000 genomes]
rs35934547	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6650848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6650849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7276974	0.83[AMR][1000 genomes]
rs7277187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs983530	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9974416	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983241	0.91[EUR][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	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17584000-17587600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:17584000-17598800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:17584200-17587800	Weak transcription	Brain Substantia Nigra	brain
5	chr21:17584200-17592200	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:17584200-17592200	Weak transcription	Fetal Stomach	stomach
7	chr21:17584400-17588200	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:17584400-17596800	Weak transcription	Ovary	ovary
9	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
10	chr21:17584600-17587800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:17584600-17587800	Weak transcription	Fetal Lung	lung
12	chr21:17584600-17588000	Weak transcription	Fetal Kidney	kidney
13	chr21:17584600-17589000	Weak transcription	Right Atrium	heart
14	chr21:17584600-17596600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr21:17584600-17596600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:17585000-17588600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:17585000-17592800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:17585000-17595200	Weak transcription	NHDF-Ad	bronchial
19	chr21:17585000-17612200	Weak transcription	Adipose Nuclei	Adipose
20	chr21:17585200-17588200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:17585200-17588200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr21:17585400-17587800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr21:17585400-17588000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:17585400-17595000	Weak transcription	Brain Angular Gyrus	brain
25	chr21:17585400-17604400	Weak transcription	Psoas Muscle	Psoas
26	chr21:17585800-17588000	Weak transcription	Dnd41	blood
27	chr21:17585800-17591800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:17586000-17587600	Weak transcription	Brain Anterior Caudate	brain
29	chr21:17586000-17591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:17586200-17587200	Weak transcription	HUVEC	blood vessel
31	chr21:17586200-17588000	Weak transcription	Fetal Heart	heart
32	chr21:17586200-17588000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr21:17586200-17596600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr21:17586200-17596800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr21:17586800-17587200	Weak transcription	Liver	Liver
36	chr21:17586800-17587800	Weak transcription	Brain Hippocampus Middle	brain

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