Variant report

Variant	rs11209988
Chromosome Location	chr1:73100055-73100056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10443263	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10493505	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889968	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10889983	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10889984	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11209986	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11209999	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11210017	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11210027	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11210030	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11210053	0.80[ASN][1000 genomes]
rs11582068	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11589065	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12024784	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029382	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038578	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12041626	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12042334	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12047199	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119472	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12119654	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12122859	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12126227	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12127252	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12128913	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12137919	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12141788	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12145832	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12402702	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap]
rs12406649	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12725368	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12726880	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12726957	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12727294	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12743848	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12749370	0.83[ASN][1000 genomes]
rs1358040	0.83[EUR][1000 genomes]
rs1525990	0.83[EUR][1000 genomes]
rs2204499	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs2243622	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.81[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2265053	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2841185	0.83[EUR][1000 genomes]
rs4128304	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147191	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4255334	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4259588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4292903	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4294370	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4372200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4424448	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4638064	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650146	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6685232	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6687187	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6691430	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691978	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7514475	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7517246	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7520480	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7526444	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326106	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9645299	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv871074	chr1:72987229-73100055	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv546564	chr1:73010123-73101763	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv428101	chr1:73017520-73211351	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv871371	chr1:73048685-73152104	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv871636	chr1:73048685-73274919	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2763560	chr1:73077448-73122262	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv871181	chr1:73084221-73305593	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv871282	chr1:73095389-73116491	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv2756845	chr1:73097100-73115205	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv2758940	chr1:73097100-73115205	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11209988	PIN1L	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73095000-73100400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:73099800-73101400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:73100000-73102600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:73100000-73103000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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