Variant report

Variant	rs16994668
Chromosome Location	chr21:17588850-17588851
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs13433500	1.00[EUR][1000 genomes]
rs1492951	0.88[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]
rs16994578	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	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823645	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823649	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823655	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823656	1.00[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823663	1.00[EUR][1000 genomes]
rs2823664	1.00[EUR][1000 genomes]
rs2823665	1.00[EUR][1000 genomes]
rs2823666	1.00[EUR][1000 genomes]
rs2823667	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	1.00[EUR][1000 genomes]
rs55941929	1.00[EUR][1000 genomes]
rs57097865	1.00[EUR][1000 genomes]
rs58869062	1.00[EUR][1000 genomes]
rs59964313	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60949090	1.00[EUR][1000 genomes]
rs60963357	1.00[EUR][1000 genomes]
rs61333624	1.00[EUR][1000 genomes]
rs61414956	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6517694	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7275189	1.00[EUR][1000 genomes]
rs7278407	1.00[EUR][1000 genomes]
rs73357138	1.00[EUR][1000 genomes]
rs73364854	1.00[EUR][1000 genomes]
rs73364899	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73364901	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73366394	1.00[EUR][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:38 , 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	chr21:17584000-17598800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:17584200-17592200	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:17584200-17592200	Weak transcription	Fetal Stomach	stomach
5	chr21:17584400-17596800	Weak transcription	Ovary	ovary
6	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
7	chr21:17584600-17589000	Weak transcription	Right Atrium	heart
8	chr21:17584600-17596600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:17584600-17596600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:17585000-17592800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:17585000-17595200	Weak transcription	NHDF-Ad	bronchial
12	chr21:17585000-17612200	Weak transcription	Adipose Nuclei	Adipose
13	chr21:17585400-17595000	Weak transcription	Brain Angular Gyrus	brain
14	chr21:17585400-17604400	Weak transcription	Psoas Muscle	Psoas
15	chr21:17585800-17591800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:17586000-17591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:17586200-17596600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr21:17586200-17596800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:17587200-17589000	Enhancers	HUVEC	blood vessel
20	chr21:17587200-17591200	Enhancers	Liver	Liver
21	chr21:17587800-17590000	Enhancers	Fetal Lung	lung
22	chr21:17588000-17589000	Enhancers	Fetal Kidney	kidney
23	chr21:17588000-17589600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr21:17588000-17590200	Enhancers	Fetal Heart	heart
25	chr21:17588000-17593800	Weak transcription	Fetal Brain Male	brain
26	chr21:17588200-17589200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr21:17588200-17589200	Enhancers	Fetal Brain Female	brain
28	chr21:17588200-17589800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:17588200-17592600	Weak transcription	Brain Anterior Caudate	brain
30	chr21:17588200-17595000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:17588400-17589200	Enhancers	Brain Substantia Nigra	brain
32	chr21:17588400-17590000	Weak transcription	Colon Smooth Muscle	Colon
33	chr21:17588600-17589200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:17588600-17596600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr21:17588600-17600600	Weak transcription	Brain Hippocampus Middle	brain
36	chr21:17588800-17593200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:17588800-17594200	Weak transcription	Dnd41	blood
38	chr21:17588800-17595600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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