Variant report

Variant	rs16996644
Chromosome Location	chr20:15813475-15813476
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10485543	1.00[ASN][1000 genomes]
rs11907606	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16996637	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16996657	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175800	0.92[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175804	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175813	0.85[EUR][1000 genomes]
rs55848652	1.00[ASN][1000 genomes]
rs57792062	1.00[ASN][1000 genomes]
rs6043561	0.81[YRI][hapmap]
rs60854916	1.00[ASN][1000 genomes]
rs6105508	1.00[ASN][1000 genomes]
rs7268466	1.00[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs73237726	1.00[ASN][1000 genomes]
rs73237730	1.00[ASN][1000 genomes]
rs73898513	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73898514	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8118253	0.85[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs8123881	0.85[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv519883	chr20:15738086-15817106	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2754713	chr20:15785800-15816800	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv585645	chr20:15796051-15817106	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv458935	chr20:15796658-15816595	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv585646	chr20:15796658-15816595	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv585647	chr20:15802809-15817106	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	nsv585648	chr20:15807441-15829235	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16996644	BFSP1	cis	cerebellum	SCAN
rs16996644	RRBP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15813400-15814400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:15813400-15814400	Weak transcription	Brain Germinal Matrix	brain

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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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