Variant report

Variant	rs12531980
Chromosome Location	chr7:3841629-3841630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10085400	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10085568	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs1013880	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs10215004	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10215340	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10241703	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10242459	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10243770	1.00[CHB][hapmap]
rs10244636	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10245389	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10246449	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10250659	0.85[JPT][hapmap]
rs10252169	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs10254099	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10256741	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10262942	1.00[CHB][hapmap]
rs10263496	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs10267786	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10273444	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10479833	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10479834	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10480105	0.82[ASN][1000 genomes]
rs10951315	0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10951336	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10951374	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11514766	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11974190	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11976915	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs11977993	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs11980947	1.00[CHB][hapmap]
rs11982345	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11983563	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs12112335	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531046	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs12532040	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12532171	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs12532903	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12532912	0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12533946	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12535195	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12536445	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12537696	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12538997	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12540101	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12540220	0.85[ASN][1000 genomes]
rs12690803	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs12690804	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12701219	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs12701221	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12701227	0.81[ASN][1000 genomes]
rs12701229	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12701262	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs13221624	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13236653	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs13236719	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs13245096	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1476644	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs1548612	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1548615	0.85[JPT][hapmap]
rs1548617	0.84[JPT][hapmap]
rs17133859	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17261199	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17324947	0.84[JPT][hapmap]
rs1962783	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1962784	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1962785	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2007554	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2057920	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2057921	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2079376	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2097900	0.83[ASN][1000 genomes]
rs2341959	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2880159	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2880204	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs34614163	0.82[ASN][1000 genomes]
rs34960833	0.82[ASN][1000 genomes]
rs35261333	0.82[ASN][1000 genomes]
rs35712888	0.81[ASN][1000 genomes]
rs41873	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs4431501	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6462361	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs6462407	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6462411	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6462413	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6462447	0.81[CHB][hapmap]
rs67665990	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6944393	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6944479	0.90[ASN][1000 genomes]
rs6945255	0.85[JPT][hapmap]
rs6945778	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6946432	0.85[JPT][hapmap]
rs6948552	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6952864	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6953036	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6953282	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6953604	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6955650	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6956479	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6957166	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6958535	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6959492	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6959674	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6959835	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6961230	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6961561	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6962058	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6962389	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs6963674	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6966030	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6968948	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6969052	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6969235	0.87[ASN][1000 genomes]
rs6970116	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6971803	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6971828	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs6971873	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6971953	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6972806	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6973944	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6975313	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6975723	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6977305	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6977844	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6978964	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs6979937	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6980085	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7778705	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7783415	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7786556	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7788747	0.90[ASN][1000 genomes]
rs7794504	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7800775	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs7804166	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7807003	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7811839	0.84[ASN][1000 genomes]
rs7811894	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs917168	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs917198	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs9655007	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9655343	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9655348	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9986911	0.89[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
4	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
5	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1021443	chr7:3705273-3889334	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1022650	chr7:3723035-3847680	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1031999	chr7:3782751-3847680	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv538683	chr7:3782751-3847680	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2756505	chr7:3789992-3856544	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv605938	chr7:3792038-3852261	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1027624	chr7:3808366-3923408	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv538684	chr7:3808366-3923408	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2762640	chr7:3838745-3856544	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3827000-3857200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3830800-3859800	Weak transcription	Pancreas	Pancrea
3	chr7:3833600-3847600	Weak transcription	Aorta	Aorta
4	chr7:3841400-3847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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