Variant report

Variant	rs4517810
Chromosome Location	chr16:80595502-80595503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80589493..80592966-chr16:80593921..80596964,3	MCF-7	breast:
2	chr16:80593040..80595743-chr16:80600736..80603732,2	K562	blood:
3	chr16:80576616..80579351-chr16:80593938..80597383,3	MCF-7	breast:
4	chr16:80594243..80596595-chr16:80599585..80602236,2	K562	blood:
5	chr16:80593676..80596340-chr16:80598060..80599713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260737	Chromatin interaction
ENSG00000168589	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10871389	0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs10871390	0.81[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs11150295	0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs11644215	1.00[CHB][hapmap]
rs11644889	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11649558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11863816	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11866588	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11866734	0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11866994	0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs12051207	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12102506	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12443848	0.85[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs12444563	0.81[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs12444723	1.00[CHB][hapmap]
rs12445674	0.87[EUR][1000 genomes]
rs12597089	0.87[EUR][1000 genomes]
rs12597602	0.87[EUR][1000 genomes]
rs12598311	0.85[EUR][1000 genomes]
rs12600027	0.84[EUR][1000 genomes]
rs12934612	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs1470822	1.00[JPT][hapmap]
rs28448585	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28531767	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28542735	0.88[EUR][1000 genomes]
rs28581872	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28583998	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28589320	0.88[EUR][1000 genomes]
rs28657821	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28658033	0.89[EUR][1000 genomes]
rs28668848	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28683132	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28759267	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4280255	0.81[CEU][hapmap]
rs4302045	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4334316	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4352063	0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs4458005	0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs4533296	0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs4541087	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4567728	0.85[EUR][1000 genomes]
rs4622526	0.88[EUR][1000 genomes]
rs4889160	0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs4889161	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59416398	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6564762	0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs6564763	0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs7187807	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs7190759	0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs8045496	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8182107	0.81[CEU][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs966671	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs9929079	0.87[ASN][1000 genomes]
rs9931700	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9932143	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9933884	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9937217	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9972743	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9972747	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4517810	CATSPER2	trans	cerebellum	SCAN
rs4517810	TERF2IP	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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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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