Variant report

Variant	rs12077966
Chromosome Location	chr1:225373936-225373937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1067206	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1067207	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10799296	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915791	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915797	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915798	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915802	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915803	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915806	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11487469	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11577306	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11578729	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11580638	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11582482	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11583802	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11584486	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11585032	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11585124	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11586783	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12064555	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068189	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068193	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12073257	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12077485	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12090119	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12097990	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12402229	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403292	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12403752	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12403778	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12406388	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12408302	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12408521	1.00[CEU][hapmap]
rs12410126	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12410491	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12411172	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12411174	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12728007	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12729289	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12733373	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12733733	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12736406	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12740067	0.89[CEU][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12740354	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12754116	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12754197	0.88[CEU][hapmap]
rs12754230	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758681	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12758819	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12759119	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs1466468	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1480101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1480107	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1553447	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs16844054	0.89[EUR][1000 genomes]
rs16844408	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844602	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs16844689	0.88[CEU][hapmap]
rs1842332	1.00[CEU][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1847906	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035302	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34051059	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34115920	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34248528	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34256167	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34304596	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34305765	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34436845	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34468096	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34517951	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34524645	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34530213	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34737903	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34764920	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34766551	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34778535	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34937935	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35150136	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35161243	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35181350	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35352581	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35553993	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35852721	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35948433	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36053633	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4319288	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4623662	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4653413	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4653607	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4653608	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653610	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4653614	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4653628	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs55680010	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55738724	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55770610	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56150737	0.82[EUR][1000 genomes]
rs56280792	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332582	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57650955	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs581675	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap]
rs582720	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs583098	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs584720	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs585470	0.89[ASN][1000 genomes]
rs585546	0.88[ASN][1000 genomes]
rs590744	0.88[ASN][1000 genomes]
rs59493468	0.90[EUR][1000 genomes]
rs596036	0.88[ASN][1000 genomes]
rs599355	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs608979	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs61849836	0.92[EUR][1000 genomes]
rs61851475	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61851476	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61851478	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61851479	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61851481	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61851487	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61851489	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61851518	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61851519	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61851520	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs621210	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs622158	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs625391	0.88[ASN][1000 genomes]
rs625428	0.88[ASN][1000 genomes]
rs633544	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs633994	0.94[EUR][1000 genomes]
rs634342	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs634895	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs635851	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs638371	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs638672	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap]
rs655529	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs661753	0.97[EUR][1000 genomes]
rs662897	0.89[ASN][1000 genomes]
rs6666735	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs669326	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6693785	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs672951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap]
rs673897	0.88[ASN][1000 genomes]
rs674025	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs675571	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs686493	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs712060	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs712061	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs71646708	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72748625	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7536245	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7541259	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7555756	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs785383	0.88[ASN][1000 genomes]
rs9887766	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9887975	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873225	chr1:225162060-225373936	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv998899	chr1:225210813-225496353	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv468205	chr1:225304971-225476025	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv549264	chr1:225304971-225476025	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv945672	chr1:225339532-225561349	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv873226	chr1:225347689-225555602	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12077966	ACBD3	cis	parietal	SCAN
rs12077966	LBR	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225373800-225374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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