Variant report

Variant	rs1915981
Chromosome Location	chr7:3510741-3510742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10224159	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10227320	0.85[JPT][hapmap]
rs10231085	0.81[ASN][1000 genomes]
rs10232765	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10235815	0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs10239408	0.81[JPT][hapmap]
rs10242223	0.83[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10246895	0.95[JPT][hapmap]
rs10249981	1.00[JPT][hapmap]
rs10252736	0.91[ASN][1000 genomes]
rs10255605	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs10259354	0.85[ASN][1000 genomes]
rs10262464	0.82[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap]
rs10262783	1.00[JPT][hapmap]
rs10264065	0.84[ASN][1000 genomes]
rs10270365	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs10274465	0.86[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10274978	0.90[JPT][hapmap]
rs10277545	0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs10278205	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs10281401	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs10454314	0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs10499327	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs10499335	0.84[CHD][hapmap]
rs10807839	0.83[CEU][hapmap];0.88[CHD][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap]
rs10951245	0.85[JPT][hapmap]
rs11761186	0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs11764387	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs11765903	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs11766702	0.83[CEU][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap]
rs11770681	0.83[CEU][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap]
rs11771359	0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs11975299	0.91[ASN][1000 genomes]
rs11977306	0.90[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.88[ASN][1000 genomes]
rs11981092	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12532848	0.84[CHD][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.85[YRI][hapmap]
rs12667184	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs12700808	0.86[CHD][hapmap]
rs12700827	0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap]
rs1357309	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.88[ASN][1000 genomes]
rs1357310	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1357312	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1403159	0.83[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.97[TSI][hapmap]
rs1464534	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1522501	0.82[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs1554497	0.82[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap]
rs1554498	0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs1554502	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs1851419	0.83[CEU][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1880610	0.83[CEU][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs1882431	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1915982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915983	0.82[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs1922018	0.81[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2090940	0.95[JPT][hapmap]
rs2140114	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs2141823	0.95[JPT][hapmap]
rs2177167	0.95[JPT][hapmap]
rs2178627	0.95[JPT][hapmap]
rs2178628	0.85[JPT][hapmap]
rs2204121	0.83[CEU][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2222868	0.85[JPT][hapmap]
rs2686852	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2705608	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs2705613	0.88[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2879918	0.85[JPT][hapmap]
rs4236323	0.83[CEU][hapmap];0.86[CHD][hapmap];0.88[TSI][hapmap]
rs4236326	0.82[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs4286835	0.82[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap]
rs4302734	0.90[ASW][hapmap];0.83[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[ASN][1000 genomes]
rs4507661	0.81[JPT][hapmap]
rs4507662	0.81[JPT][hapmap]
rs4719943	0.88[CHD][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.84[ASN][1000 genomes]
rs4722679	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs4722735	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4722830	1.00[ASW][hapmap];0.83[CEU][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4722850	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6415253	0.83[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs6415254	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6461984	0.83[CEU][hapmap];0.86[CHD][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.85[YRI][hapmap]
rs6462040	0.82[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs6462068	0.83[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6462069	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6462071	0.83[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs6462083	0.82[ASN][1000 genomes]
rs6946678	0.83[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap]
rs6947525	0.91[CHD][hapmap];0.90[JPT][hapmap]
rs6964838	0.82[CHB][hapmap]
rs6967281	0.83[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap]
rs6968665	0.82[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs6969267	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6969407	0.85[JPT][hapmap]
rs6978391	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7776559	0.93[CHD][hapmap];0.85[JPT][hapmap]
rs7779688	0.90[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.88[ASN][1000 genomes]
rs7780498	0.85[JPT][hapmap]
rs7780621	0.92[ASN][1000 genomes]
rs7784497	0.83[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs7790430	0.95[JPT][hapmap]
rs7791343	0.91[CHD][hapmap];0.95[JPT][hapmap]
rs7794534	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7798141	0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs7800089	0.83[CEU][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs7802106	0.83[CEU][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs7807065	0.94[JPT][hapmap]
rs7809446	0.83[CEU][hapmap];0.95[JPT][hapmap]
rs7811384	0.85[JPT][hapmap]
rs939912	0.83[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap]
rs939913	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs9791502	0.85[JPT][hapmap]
rs9969296	0.83[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020764	chr7:3348458-3554820	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv538662	chr7:3348458-3554820	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1015296	chr7:3381813-3560401	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv887330	chr7:3424878-3515437	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv528715	chr7:3451251-3598581	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv887332	chr7:3455249-3521000	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv605902	chr7:3464896-3598581	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv605903	chr7:3472721-3527925	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv887333	chr7:3475716-3542488	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv869723	chr7:3482682-3566293	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv464270	chr7:3490865-3581357	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv605904	chr7:3490865-3581357	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1027426	chr7:3506255-3556395	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv538672	chr7:3506255-3556395	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1915981	C7orf50	cis	parietal	SCAN
rs1915981	TNRC18	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
2	chr7:3502000-3521200	Weak transcription	Aorta	Aorta
3	chr7:3504800-3511600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:3506200-3521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3509400-3511400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:3510000-3511000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:3510200-3512200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:3510400-3511000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:3510400-3511000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:3510400-3511200	Weak transcription	Primary T cells from cord blood	blood
11	chr7:3510600-3511000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:3510600-3511800	Enhancers	Fetal Lung	lung

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