Variant report

Variant	rs16994578
Chromosome Location	chr21:17576297-17576298
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs13433500	1.00[EUR][1000 genomes]
rs1492951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1492958	1.00[EUR][1000 genomes]
rs1689046	1.00[EUR][1000 genomes]
rs16993170	1.00[EUR][1000 genomes]
rs16994668	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994829	1.00[EUR][1000 genomes]
rs16994966	1.00[EUR][1000 genomes]
rs1786832	1.00[EUR][1000 genomes]
rs1786833	1.00[EUR][1000 genomes]
rs239069	1.00[EUR][1000 genomes]
rs239077	1.00[EUR][1000 genomes]
rs2823640	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823645	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823655	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823656	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823663	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823664	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823665	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823666	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823667	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823668	1.00[EUR][1000 genomes]
rs2823670	1.00[EUR][1000 genomes]
rs2823673	1.00[EUR][1000 genomes]
rs2823680	1.00[EUR][1000 genomes]
rs2823681	1.00[EUR][1000 genomes]
rs2823686	1.00[EUR][1000 genomes]
rs2823689	1.00[EUR][1000 genomes]
rs2823690	1.00[EUR][1000 genomes]
rs2823691	1.00[EUR][1000 genomes]
rs2823693	1.00[EUR][1000 genomes]
rs2823694	1.00[EUR][1000 genomes]
rs2823698	1.00[EUR][1000 genomes]
rs2823701	1.00[EUR][1000 genomes]
rs2823706	1.00[EUR][1000 genomes]
rs2823714	1.00[EUR][1000 genomes]
rs2823719	1.00[EUR][1000 genomes]
rs2823723	1.00[EUR][1000 genomes]
rs2823724	1.00[EUR][1000 genomes]
rs2823726	1.00[EUR][1000 genomes]
rs2823727	1.00[EUR][1000 genomes]
rs2823728	1.00[EUR][1000 genomes]
rs28379017	1.00[EUR][1000 genomes]
rs28401314	1.00[EUR][1000 genomes]
rs55909634	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55941929	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57097865	1.00[EUR][1000 genomes]
rs58869062	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59964313	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60949090	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60963357	1.00[EUR][1000 genomes]
rs61333624	1.00[EUR][1000 genomes]
rs61414956	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6517694	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7275189	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7278407	1.00[EUR][1000 genomes]
rs73357138	1.00[EUR][1000 genomes]
rs73364854	1.00[EUR][1000 genomes]
rs73364899	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73364901	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73366394	1.00[EUR][1000 genomes]
rs73366805	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73368220	1.00[EUR][1000 genomes]
rs73368227	1.00[EUR][1000 genomes]
rs8126809	1.00[EUR][1000 genomes]
rs8128157	1.00[EUR][1000 genomes]
rs8134616	1.00[EUR][1000 genomes]
rs9975784	1.00[EUR][1000 genomes]
rs9977577	1.00[EUR][1000 genomes]
rs9977984	1.00[EUR][1000 genomes]
rs9981526	1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17567600-17583600	Weak transcription	Left Ventricle	heart
2	chr21:17569800-17577400	Weak transcription	Fetal Brain Male	brain
3	chr21:17569800-17579600	Weak transcription	NHDF-Ad	bronchial
4	chr21:17569800-17583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:17569800-17583600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:17569800-17583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:17570000-17576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17570000-17583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:17570000-17583600	Weak transcription	Osteobl	bone
10	chr21:17570400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr21:17571200-17577200	Weak transcription	Brain Hippocampus Middle	brain
12	chr21:17571200-17577800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:17571400-17583600	Weak transcription	Psoas Muscle	Psoas
14	chr21:17571400-17583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:17571600-17583800	Weak transcription	HUVEC	blood vessel
16	chr21:17573400-17583800	Weak transcription	Hela-S3	cervix
17	chr21:17573600-17582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:17574400-17582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:17574600-17577800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:17575800-17576400	Enhancers	Ovary	ovary
21	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:17576200-17576400	Enhancers	Colon Smooth Muscle	Colon

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