Variant report

Variant	rs7119459
Chromosome Location	chr11:84298844-84298845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10160778	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10466699	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10466723	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10501568	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs10898266	0.81[JPT][hapmap]
rs11234087	1.00[ASN][1000 genomes]
rs11234096	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12273005	0.87[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12284979	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17147448	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17147476	0.81[GIH][hapmap];0.85[TSI][hapmap]
rs17734964	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs17735200	0.94[CEU][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes]
rs17807611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs17807712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1940071	0.80[CEU][hapmap];0.81[GIH][hapmap]
rs1940072	0.92[JPT][hapmap]
rs1940091	0.94[CEU][hapmap];0.94[GIH][hapmap];0.85[TSI][hapmap]
rs4145049	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap]
rs56263826	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56892049	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57257053	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57320142	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59996663	0.81[ASN][1000 genomes]
rs61897759	0.81[ASN][1000 genomes]
rs61898965	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61898990	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7105003	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7107160	0.80[CEU][hapmap]
rs7107450	0.92[JPT][hapmap]
rs7112468	0.92[JPT][hapmap]
rs7113567	0.89[ASN][1000 genomes]
rs7114068	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7114098	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73511131	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7946469	0.88[GIH][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1038641	chr11:83996453-84334045	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541103	chr11:83996453-84334045	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv898031	chr11:84060342-84379671	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1041755	chr11:84067493-84315623	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv541104	chr11:84067493-84315623	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv817504	chr11:84070883-84301151	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1047875	chr11:84150376-84380393	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv917176	chr11:84157998-84419488	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1047342	chr11:84187214-84380393	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1045974	chr11:84187214-84708462	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1035566	chr11:84203688-84340842	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv555612	chr11:84222437-84415122	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv468766	chr11:84267185-84345829	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv555614	chr11:84267185-84345829	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv898032	chr11:84274481-84364527	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1037047	chr11:84290572-84414586	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv541106	chr11:84290572-84414586	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7119459	PITPNC1	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84297400-84301000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:84298600-84299200	Enhancers	Brain Angular Gyrus	brain
3	chr11:84298800-84299200	Enhancers	Brain Anterior Caudate	brain

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