Variant report

Variant	rs9978710
Chromosome Location	chr21:17985051-17985052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12482916	0.82[EUR][1000 genomes]
rs2018708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2211981	0.87[EUR][1000 genomes]
rs2823897	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2823898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2823899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823900	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2823901	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2823903	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823904	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2823905	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823906	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2823907	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823908	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28547508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818273	0.82[EUR][1000 genomes]
rs8126862	0.82[EUR][1000 genomes]
rs915763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs915764	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9284478	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9305771	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9305772	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9976775	0.93[EUR][1000 genomes]
rs9976817	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
3	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix
4	chr21:17969000-18005200	Weak transcription	Liver	Liver
5	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
6	chr21:17976000-18001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:17977800-17989800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr21:17977800-17993600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:17978200-17985800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr21:17978200-17988600	Weak transcription	Fetal Stomach	stomach
11	chr21:17978400-18006200	Weak transcription	Left Ventricle	heart
12	chr21:17979000-17996600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:17979400-18006600	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:17979800-17986200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:17980400-17993600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr21:17981000-17996800	Weak transcription	Fetal Brain Male	brain
17	chr21:17981200-17997000	Weak transcription	Fetal Brain Female	brain
18	chr21:17981400-17991200	Weak transcription	Adipose Nuclei	Adipose
19	chr21:17981800-17995400	Weak transcription	HSMM	muscle
20	chr21:17982000-17996800	Weak transcription	Ovary	ovary
21	chr21:17982000-18005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:17982200-17993800	Weak transcription	Fetal Muscle Leg	muscle
23	chr21:17982400-18006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:17984400-17985400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr21:17984600-17985200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:17985000-17986200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr21:17985000-17986200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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