Variant report

Variant	rs16947078
Chromosome Location	chr17:45825500-45825501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11079788	0.89[CEU][hapmap];0.86[AMR][1000 genomes]
rs11650451	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs11651000	1.00[ASN][1000 genomes]
rs11652603	0.91[ASN][1000 genomes]
rs11655306	0.88[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11657388	0.89[CEU][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes]
rs11657479	0.89[CEU][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]
rs11658895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12451801	0.86[AMR][1000 genomes]
rs17700839	1.00[CHB][hapmap]
rs4794063	0.94[YRI][hapmap]
rs55670919	0.91[ASN][1000 genomes]
rs56172120	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254413	0.91[ASN][1000 genomes]
rs57171311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831681	1.00[ASN][1000 genomes]
rs7502875	0.94[CEU][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8068453	0.81[AFR][1000 genomes]
rs9898606	1.00[CHB][hapmap]

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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv1811624	chr17:45825220-45846505	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16947078	C17orf57	cis	parietal	SCAN
rs16947078	PSMC3IP	cis	cerebellum	SCAN
rs16947078	C17orf57	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45820600-45826200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:45820600-45830400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:45823000-45825800	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr17:45823600-45826800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr17:45823800-45825800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:45824000-45825800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:45824400-45831800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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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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