Variant report

Variant	rs9983786
Chromosome Location	chr21:37922707-37922708
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2835398	0.88[ASN][1000 genomes]
rs28374138	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28490337	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35210386	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62230972	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73206285	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9305596	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9975608	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9978893	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9981101	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9982036	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9983787	0.84[ASN][1000 genomes]
rs9984382	0.85[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9984547	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9984896	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9983786	PSMG1	cis	parietal	SCAN
rs9983786	BRWD1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37915800-37924800	Weak transcription	Right Atrium	heart
2	chr21:37919600-37922800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:37920200-37923400	Weak transcription	Fetal Lung	lung
4	chr21:37920200-37923800	Weak transcription	Ovary	ovary
5	chr21:37920400-37922800	Weak transcription	Liver	Liver
6	chr21:37920600-37923400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:37921600-37922800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:37921800-37922800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr21:37921800-37923000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr21:37921800-37923800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr21:37921800-37924000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr21:37922000-37922800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr21:37922000-37928800	Enhancers	Fetal Muscle Leg	muscle
14	chr21:37922200-37923000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr21:37922400-37923200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:37922400-37923200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:37922600-37922800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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