Variant report

Variant	rs2823658
Chromosome Location	chr21:17588874-17588875
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13051257	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1475885	1.00[JPT][hapmap]
rs1492952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1492953	0.92[CEU][hapmap]
rs1689059	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs239003	0.87[CEU][hapmap]
rs239006	0.88[CEU][hapmap]
rs2823639	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823641	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823642	0.87[CEU][hapmap]
rs2823643	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823645	0.84[YRI][hapmap]
rs2823646	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823649	0.84[YRI][hapmap]
rs2823651	0.87[CEU][hapmap]
rs2823652	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2823653	0.87[CEU][hapmap]
rs2823654	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823655	0.84[YRI][hapmap]
rs2823656	0.83[YRI][hapmap]
rs2823657	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823659	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs2823674	0.88[JPT][hapmap]
rs2823680	0.81[YRI][hapmap]
rs6650848	0.88[CEU][hapmap]
rs7277187	0.88[CEU][hapmap]
rs915799	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9637000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983530	0.87[CEU][hapmap]
rs9982228	0.84[EUR][1000 genomes];0.94[ASN][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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