Variant report

Variant	rs12749370
Chromosome Location	chr1:73214975-73214976
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10493505	0.82[EUR][1000 genomes]
rs10889968	0.86[ASN][1000 genomes]
rs10889983	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889984	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11209988	0.83[ASN][1000 genomes]
rs11209999	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11210017	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11210027	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11210030	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11210053	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11582068	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11589065	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12024784	0.86[ASN][1000 genomes]
rs12029382	0.83[ASN][1000 genomes]
rs12038578	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12042334	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12047199	0.83[ASN][1000 genomes]
rs12119472	0.82[EUR][1000 genomes]
rs12119654	0.82[EUR][1000 genomes]
rs12122859	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12126227	0.82[EUR][1000 genomes]
rs12127252	0.81[EUR][1000 genomes]
rs12128913	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12137919	0.85[ASN][1000 genomes]
rs12141788	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12145832	0.82[EUR][1000 genomes]
rs12402702	0.94[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs12406649	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12725368	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12726880	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12726957	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12727294	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12743848	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1358040	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1525990	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1534173	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1998719	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2204499	1.00[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs2243622	0.94[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2265053	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2841185	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4128304	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4147191	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4255334	0.82[EUR][1000 genomes]
rs4259588	0.85[ASN][1000 genomes]
rs4292903	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4294370	0.86[ASN][1000 genomes]
rs4372200	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4424448	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4638064	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4650145	0.86[ASN][1000 genomes]
rs4650146	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6685232	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs6687187	0.85[ASN][1000 genomes]
rs6691430	0.85[ASN][1000 genomes]
rs6691978	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7517246	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520480	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7526444	0.83[ASN][1000 genomes]
rs9326106	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9645299	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2757735	chr1:73181612-73307170	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2758941	chr1:73181612-73307170	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1013549	chr1:73209040-73408373	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12749370	PIN1L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73213000-73215000	Enhancers	Brain Germinal Matrix	brain

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