Variant report

Variant	rs2836496
Chromosome Location	chr21:39914513-39914514
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10483047	1.00[CEU][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12329687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836491	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836493	0.91[ASW][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836505	1.00[CEU][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs2836522	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28477632	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28479390	0.91[EUR][1000 genomes]
rs4816598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9808818	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9975915	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978340	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs9979462	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9980455	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9981003	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3455210	chr21:39911274-39917321	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3455214	chr21:39911387-39917206	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3455211	chr21:39911422-39917196	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3455213	chr21:39911463-39917193	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3455212	chr21:39911580-39917084	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3455215	chr21:39911594-39917083	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv817930	chr21:39913147-39916756	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2836496	PSMG1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39911200-39935200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:39913000-39917600	Weak transcription	Aorta	Aorta

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Input of quick search could be:

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

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