Variant report

Variant	rs9974416
Chromosome Location	chr21:17578448-17578449
allele	A/G
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	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492953	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619989	0.83[AMR][1000 genomes]
rs190229	0.84[AMR][1000 genomes]
rs2156360	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs239003	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239006	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2639700	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2823638	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823646	0.81[AMR][1000 genomes]
rs2823650	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823651	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823659	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823660	1.00[ASN][1000 genomes]
rs2823661	0.95[ASN][1000 genomes]
rs35934547	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6650848	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650849	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276974	0.83[AMR][1000 genomes]
rs7277187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283145	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs983530	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983241	0.87[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17567600-17583600	Weak transcription	Left Ventricle	heart
2	chr21:17569800-17579600	Weak transcription	NHDF-Ad	bronchial
3	chr21:17569800-17583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:17569800-17583600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:17569800-17583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:17570000-17583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr21:17570000-17583600	Weak transcription	Osteobl	bone
8	chr21:17570400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:17571400-17583600	Weak transcription	Psoas Muscle	Psoas
10	chr21:17571400-17583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:17571600-17583800	Weak transcription	HUVEC	blood vessel
12	chr21:17573400-17583800	Weak transcription	Hela-S3	cervix
13	chr21:17573600-17582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:17574400-17582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:17576400-17581200	Weak transcription	Ovary	ovary
17	chr21:17576400-17583600	Weak transcription	Colon Smooth Muscle	Colon
18	chr21:17577800-17578600	Enhancers	Brain Anterior Caudate	brain
19	chr21:17578200-17579600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:17578200-17580800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:17578200-17583600	Weak transcription	Brain Angular Gyrus	brain
22	chr21:17578200-17583600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr21:17578200-17583600	Weak transcription	Brain Hippocampus Middle	brain
24	chr21:17578200-17583600	Weak transcription	Brain Inferior Temporal Lobe	brain

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