Variant report

Variant	rs12495229
Chromosome Location	chr3:86852024-86852025
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10470570	0.82[EUR][1000 genomes]
rs11127959	0.87[EUR][1000 genomes]
rs11714652	0.93[EUR][1000 genomes]
rs11718876	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11718877	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11718975	0.83[EUR][1000 genomes]
rs11917335	0.83[EUR][1000 genomes]
rs11919691	0.81[EUR][1000 genomes]
rs12487818	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12489293	0.94[EUR][1000 genomes]
rs12489298	0.94[EUR][1000 genomes]
rs12489313	0.94[EUR][1000 genomes]
rs12493521	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12495954	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12637913	0.84[EUR][1000 genomes]
rs12637947	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1370212	0.84[EUR][1000 genomes]
rs1437047	0.92[EUR][1000 genomes]
rs1437048	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1437049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437055	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1583577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1583578	0.94[EUR][1000 genomes]
rs17364877	0.84[EUR][1000 genomes]
rs2043685	0.95[EUR][1000 genomes]
rs2083018	0.87[EUR][1000 genomes]
rs2118188	0.94[EUR][1000 genomes]
rs2118189	0.94[EUR][1000 genomes]
rs2118190	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2118191	0.95[EUR][1000 genomes]
rs2118192	0.95[EUR][1000 genomes]
rs2164647	0.94[EUR][1000 genomes]
rs2324795	0.94[EUR][1000 genomes]
rs28553515	0.94[EUR][1000 genomes]
rs28894812	0.95[EUR][1000 genomes]
rs35309716	0.84[EUR][1000 genomes]
rs36015800	0.94[EUR][1000 genomes]
rs4425259	0.94[EUR][1000 genomes]
rs4572769	0.94[EUR][1000 genomes]
rs4855148	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4855174	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55719700	0.83[EUR][1000 genomes]
rs56044242	0.85[EUR][1000 genomes]
rs57877392	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59662471	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6775872	0.83[EUR][1000 genomes]
rs6779214	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6782806	0.94[EUR][1000 genomes]
rs6807530	0.93[EUR][1000 genomes]
rs728179	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs728180	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133829	0.82[EUR][1000 genomes]
rs73137958	0.92[EUR][1000 genomes]
rs73137985	0.94[EUR][1000 genomes]
rs73139911	0.94[EUR][1000 genomes]
rs73139914	0.94[EUR][1000 genomes]
rs73139922	0.94[EUR][1000 genomes]
rs73139923	0.94[EUR][1000 genomes]
rs7628864	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7630849	0.95[EUR][1000 genomes]
rs7631441	0.84[EUR][1000 genomes]
rs920188	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9631517	0.93[EUR][1000 genomes]
rs9756254	0.81[EUR][1000 genomes]
rs9815344	0.87[EUR][1000 genomes]
rs9815450	0.87[EUR][1000 genomes]
rs9816006	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9818400	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819570	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9819897	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9821486	0.86[EUR][1000 genomes]
rs9833108	0.86[EUR][1000 genomes]
rs9841059	0.86[EUR][1000 genomes]
rs9844776	0.95[EUR][1000 genomes]
rs9850281	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9859483	0.81[EUR][1000 genomes]
rs9862624	0.81[EUR][1000 genomes]
rs9864625	0.94[EUR][1000 genomes]
rs9866183	0.85[EUR][1000 genomes]
rs9881535	0.95[EUR][1000 genomes]
rs9985323	0.81[EUR][1000 genomes]
rs9985324	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877116	chr3:86518318-86964922	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv877117	chr3:86665408-86927574	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv877118	chr3:86722823-86927574	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv877119	chr3:86722823-86952516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv877120	chr3:86722823-86961118	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv877121	chr3:86732817-86916882	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877122	chr3:86732817-86927574	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv877123	chr3:86732817-86952516	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv877125	chr3:86794501-86916882	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv877126	chr3:86794501-86927574	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv519148	chr3:86831077-86995124	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv877127	chr3:86832039-86952516	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1008177	chr3:86841615-86905761	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
14	nsv877128	chr3:86845934-86952516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
15	nsv877129	chr3:86845934-86964922	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
16	esv3463418	chr3:86848142-86855376	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	n/a
17	esv3463419	chr3:86848142-86855376	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	n/a
18	esv21028	chr3:86848288-86855189	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	n/a
19	nsv963268	chr3:86850928-86852314	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86836600-86864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:86849800-86852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:86852000-86854400	Weak transcription	NHDF-Ad	bronchial

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