Variant report

Variant	rs9975284
Chromosome Location	chr21:17844216-17844217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs12483106	0.80[ASN][1000 genomes]
rs2000626	0.89[CHB][hapmap]
rs2404135	0.80[ASN][1000 genomes]
rs2823823	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2823824	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2823829	0.95[ASN][1000 genomes]
rs2823832	1.00[EUR][1000 genomes]
rs2823833	0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823834	0.90[AMR][1000 genomes]
rs2823835	0.90[AMR][1000 genomes]
rs2823848	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2823850	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2823851	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2823863	1.00[JPT][hapmap]
rs2823881	0.86[CHB][hapmap]
rs2823892	0.86[CHB][hapmap]
rs28433186	1.00[EUR][1000 genomes]
rs28526796	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28643005	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28690432	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28840743	1.00[EUR][1000 genomes]
rs28875621	0.90[AMR][1000 genomes]
rs57055406	1.00[EUR][1000 genomes]
rs57523013	0.90[AMR][1000 genomes]
rs57659737	1.00[EUR][1000 genomes]
rs58072187	0.90[AMR][1000 genomes]
rs58304651	0.90[AMR][1000 genomes]
rs58611293	0.90[ASN][1000 genomes]
rs58640456	0.90[AMR][1000 genomes]
rs59527462	0.80[ASN][1000 genomes]
rs59959567	1.00[EUR][1000 genomes]
rs60754236	0.90[AMR][1000 genomes]
rs60925168	1.00[EUR][1000 genomes]
rs61549904	1.00[EUR][1000 genomes]
rs73363411	0.90[AMR][1000 genomes]
rs73363422	1.00[EUR][1000 genomes]
rs73363426	1.00[EUR][1000 genomes]
rs73368523	0.90[AMR][1000 genomes]
rs73380342	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73380344	0.90[AMR][1000 genomes]
rs8126961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8131711	0.93[ASN][1000 genomes]
rs8131829	0.93[ASN][1000 genomes]
rs8132964	1.00[EUR][1000 genomes]
rs9305769	1.00[JPT][hapmap]
rs9974386	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975047	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975202	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975582	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976648	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976995	0.80[ASN][1000 genomes]
rs9977372	1.00[EUR][1000 genomes]
rs9977870	0.80[ASN][1000 genomes]
rs9979076	0.80[ASN][1000 genomes]
rs9979111	0.80[ASN][1000 genomes]
rs9980810	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980959	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981657	0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9982229	1.00[JPT][hapmap]
rs9982511	1.00[EUR][1000 genomes]
rs9984639	1.00[EUR][1000 genomes]
rs9984951	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9984970	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9985090	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9985151	1.00[EUR][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	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 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	chr21:17830400-17845600	Weak transcription	Right Atrium	heart
2	chr21:17835400-17846400	Weak transcription	Left Ventricle	heart
3	chr21:17836400-17846200	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:17836800-17848400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:17836800-17848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr21:17837400-17848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:17838000-17846200	Weak transcription	Ovary	ovary
8	chr21:17838000-17850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:17840400-17848200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:17840400-17860800	Weak transcription	HUVEC	blood vessel
11	chr21:17841000-17846200	Weak transcription	Osteobl	bone
12	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
13	chr21:17841400-17848200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr21:17843000-17845600	Weak transcription	Psoas Muscle	Psoas
15	chr21:17843600-17844800	Weak transcription	Aorta	Aorta
16	chr21:17843600-17845600	Weak transcription	Adipose Nuclei	Adipose
17	chr21:17843600-17846200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:17843800-17845800	Weak transcription	Fetal Heart	heart
19	chr21:17844000-17845600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr21:17844000-17845800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:17844000-17845800	Weak transcription	Brain Anterior Caudate	brain
22	chr21:17844000-17846000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:17844000-17846200	Weak transcription	Brain Hippocampus Middle	brain
24	chr21:17844000-17846400	Weak transcription	Brain Angular Gyrus	brain
25	chr21:17844000-17846400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr21:17844200-17845800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:17844200-17846200	Weak transcription	Brain Substantia Nigra	brain

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