Variant report

Variant	rs12700767
Chromosome Location	chr7:3326129-3326130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs10224159	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10232765	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10235815	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10239408	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs10240575	0.95[ASN][1000 genomes]
rs10242223	0.95[JPT][hapmap]
rs10246895	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs10249981	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10255389	0.80[EUR][1000 genomes]
rs10255605	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10255825	0.97[ASN][1000 genomes]
rs10262464	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10262783	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10266085	0.97[ASN][1000 genomes]
rs10269416	0.97[ASN][1000 genomes]
rs10270365	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10274465	0.90[JPT][hapmap]
rs10274978	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10277545	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10278205	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10281401	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10435014	0.81[ASN][1000 genomes]
rs10435102	0.81[ASN][1000 genomes]
rs10454314	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10499327	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10807839	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10951151	0.96[ASN][1000 genomes]
rs10951153	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1112758	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11486822	0.92[EUR][1000 genomes]
rs11761186	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11763250	0.91[ASN][1000 genomes]
rs11764387	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11765903	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs11766702	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11770681	0.95[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs11771359	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11771755	0.81[ASN][1000 genomes]
rs11773473	0.89[ASN][1000 genomes]
rs11773479	0.91[ASN][1000 genomes]
rs11773532	0.82[CHB][hapmap]
rs11973050	0.96[ASN][1000 genomes]
rs11977306	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs11979697	0.96[ASN][1000 genomes]
rs11981092	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12532848	0.91[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12534906	0.82[EUR][1000 genomes]
rs12535065	0.91[CEU][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12535505	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12537325	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12537420	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12538134	0.84[EUR][1000 genomes]
rs12540385	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12666381	0.81[ASN][1000 genomes]
rs12667184	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12700766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700816	0.83[EUR][1000 genomes]
rs12700827	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13225681	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13240540	0.96[ASN][1000 genomes]
rs13243372	0.94[ASN][1000 genomes]
rs1357309	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs1357310	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1357312	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1403159	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1404873	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1464534	0.91[CEU][hapmap];0.95[JPT][hapmap]
rs1522501	0.95[CEU][hapmap];0.89[JPT][hapmap]
rs1525558	0.96[ASN][1000 genomes]
rs1554497	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1554498	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1554502	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1581564	0.97[ASN][1000 genomes]
rs17133223	0.95[ASN][1000 genomes]
rs1807849	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1818931	0.97[ASN][1000 genomes]
rs1818932	0.93[ASN][1000 genomes]
rs1851419	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs1880610	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1882431	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1915981	1.00[JPT][hapmap]
rs1915982	1.00[JPT][hapmap]
rs1915983	0.90[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2140114	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2177167	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs2204121	0.96[CEU][hapmap];0.95[JPT][hapmap]
rs28713780	0.95[ASN][1000 genomes]
rs34170704	0.97[ASN][1000 genomes]
rs34825038	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35154693	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35218591	0.83[EUR][1000 genomes]
rs35630637	0.83[EUR][1000 genomes]
rs35682547	0.97[ASN][1000 genomes]
rs35785661	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4236323	0.96[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4236326	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4286835	0.91[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4302734	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs4311565	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4343998	0.83[CEU][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4398803	0.85[EUR][1000 genomes]
rs4451210	0.85[EUR][1000 genomes]
rs4464862	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4507661	0.81[JPT][hapmap]
rs4507662	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs4640963	0.81[EUR][1000 genomes]
rs4719880	0.84[EUR][1000 genomes]
rs4719943	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs4722667	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4722679	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4722695	0.82[CEU][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4722716	0.81[EUR][1000 genomes]
rs4722735	0.91[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs4722830	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs4722850	0.95[JPT][hapmap]
rs5006696	0.81[EUR][1000 genomes]
rs55886034	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55948465	0.84[EUR][1000 genomes]
rs55986112	0.80[EUR][1000 genomes]
rs6415253	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs6415254	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs6461984	0.95[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6462040	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6462059	0.80[EUR][1000 genomes]
rs6462068	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6462069	0.96[CEU][hapmap];0.95[JPT][hapmap]
rs6462071	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap]
rs66604259	0.84[EUR][1000 genomes]
rs68135341	0.82[EUR][1000 genomes]
rs6946541	0.83[EUR][1000 genomes]
rs6946678	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6947525	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs6959185	0.84[EUR][1000 genomes]
rs6966730	0.83[EUR][1000 genomes]
rs6967281	0.95[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6968665	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6969267	0.95[JPT][hapmap]
rs6978381	0.84[EUR][1000 genomes]
rs6978391	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs71531470	0.95[ASN][1000 genomes]
rs73046607	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73046641	0.87[EUR][1000 genomes]
rs7457935	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7776539	0.82[ASN][1000 genomes]
rs7776559	0.90[JPT][hapmap]
rs7777327	0.82[ASN][1000 genomes]
rs7779688	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs7780498	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7781536	0.95[ASN][1000 genomes]
rs7781694	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7783666	0.81[ASN][1000 genomes]
rs7784336	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7784497	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs7790430	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs7791187	0.95[ASN][1000 genomes]
rs7791343	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7793799	0.95[ASN][1000 genomes]
rs7794409	0.95[ASN][1000 genomes]
rs7794534	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7794698	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7795300	0.95[ASN][1000 genomes]
rs7795899	0.82[ASN][1000 genomes]
rs7798141	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7799953	0.82[ASN][1000 genomes]
rs7800089	0.95[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs7802106	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7804333	0.83[EUR][1000 genomes]
rs7807065	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7809446	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs939912	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs940779	0.95[ASN][1000 genomes]
rs940780	0.96[ASN][1000 genomes]
rs940781	0.97[ASN][1000 genomes]
rs9654984	0.81[ASN][1000 genomes]
rs9655268	0.82[ASN][1000 genomes]
rs9655269	0.85[CHB][hapmap]
rs9969296	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464264	chr7:3194156-3349625	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv605880	chr7:3194156-3349625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv887322	chr7:3264728-3332630	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv887323	chr7:3271998-3332630	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv887324	chr7:3308195-3400105	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3325600-3334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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