Variant report

Variant	rs12073648
Chromosome Location	chr14:67059383-67059384
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10399821	0.83[ASN][1000 genomes]
rs10399941	0.92[ASN][1000 genomes]
rs10495231	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10799293	1.00[ASN][1000 genomes]
rs10915747	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10915748	0.85[ASN][1000 genomes]
rs10915749	0.85[ASN][1000 genomes]
rs10915750	0.85[ASN][1000 genomes]
rs10915751	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10915757	0.85[ASN][1000 genomes]
rs10915758	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10915761	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10915762	0.92[ASN][1000 genomes]
rs10915763	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10915778	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915780	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915785	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915786	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10915788	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10915789	0.96[ASN][1000 genomes]
rs10915795	0.96[ASN][1000 genomes]
rs10915799	0.96[ASN][1000 genomes]
rs10915800	0.96[ASN][1000 genomes]
rs10915801	0.96[ASN][1000 genomes]
rs10915808	0.96[ASN][1000 genomes]
rs11484699	0.96[ASN][1000 genomes]
rs11484714	0.96[ASN][1000 genomes]
rs11484715	0.96[ASN][1000 genomes]
rs11487462	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11487470	0.96[ASN][1000 genomes]
rs12059834	1.00[ASN][1000 genomes]
rs12061133	1.00[ASN][1000 genomes]
rs12061172	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12061265	1.00[ASN][1000 genomes]
rs12062457	0.96[ASN][1000 genomes]
rs12062461	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12064443	0.96[ASN][1000 genomes]
rs12064759	0.96[ASN][1000 genomes]
rs12064870	0.96[ASN][1000 genomes]
rs12066443	1.00[ASN][1000 genomes]
rs12066458	0.96[ASN][1000 genomes]
rs12067725	0.96[ASN][1000 genomes]
rs12067756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12068014	0.96[ASN][1000 genomes]
rs12069353	0.96[ASN][1000 genomes]
rs12069461	0.96[ASN][1000 genomes]
rs12069808	1.00[ASN][1000 genomes]
rs12070493	0.96[ASN][1000 genomes]
rs12071270	1.00[ASN][1000 genomes]
rs12071453	0.85[ASN][1000 genomes]
rs12071776	1.00[ASN][1000 genomes]
rs12072713	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12072720	0.88[ASN][1000 genomes]
rs12074130	0.85[ASN][1000 genomes]
rs12074382	1.00[ASN][1000 genomes]
rs12074477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12074718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12075769	1.00[ASN][1000 genomes]
rs12078470	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12078559	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12078696	0.96[ASN][1000 genomes]
rs12079258	0.96[ASN][1000 genomes]
rs12080062	1.00[ASN][1000 genomes]
rs12081545	0.96[ASN][1000 genomes]
rs12082397	0.85[ASN][1000 genomes]
rs12084177	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12084937	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12085406	0.96[ASN][1000 genomes]
rs12086122	0.85[ASN][1000 genomes]
rs12086185	0.96[ASN][1000 genomes]
rs12086373	0.85[ASN][1000 genomes]
rs12086473	1.00[ASN][1000 genomes]
rs12087715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12088357	0.96[ASN][1000 genomes]
rs12088836	0.92[ASN][1000 genomes]
rs12089294	0.96[ASN][1000 genomes]
rs12089735	0.96[ASN][1000 genomes]
rs12091019	0.96[ASN][1000 genomes]
rs12091058	0.96[ASN][1000 genomes]
rs12091059	0.96[ASN][1000 genomes]
rs12092293	0.96[ASN][1000 genomes]
rs12092671	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12093086	0.85[ASN][1000 genomes]
rs12093545	0.85[ASN][1000 genomes]
rs12094453	0.96[ASN][1000 genomes]
rs12094780	0.96[ASN][1000 genomes]
rs12095812	0.85[ASN][1000 genomes]
rs12095892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12096616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12097555	0.96[ASN][1000 genomes]
rs1480102	1.00[ASN][1000 genomes]
rs1480108	0.96[ASN][1000 genomes]
rs1600530	0.96[ASN][1000 genomes]
rs16844321	1.00[ASN][1000 genomes]
rs16844341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16844389	0.96[ASN][1000 genomes]
rs16844455	0.96[ASN][1000 genomes]
rs16858965	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1842335	0.96[ASN][1000 genomes]
rs2127558	1.00[ASN][1000 genomes]
rs2153246	1.00[ASN][1000 genomes]
rs2170110	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2449279	0.92[ASN][1000 genomes]
rs2449305	0.92[ASN][1000 genomes]
rs2449306	0.92[ASN][1000 genomes]
rs2456344	0.92[ASN][1000 genomes]
rs2456350	0.92[ASN][1000 genomes]
rs2456354	0.92[ASN][1000 genomes]
rs2501103	0.92[ASN][1000 genomes]
rs2501112	1.00[ASN][1000 genomes]
rs28793649	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28871966	1.00[ASN][1000 genomes]
rs3991375	0.96[ASN][1000 genomes]
rs4275419	1.00[ASN][1000 genomes]
rs55708629	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs56302122	0.92[ASN][1000 genomes]
rs57262741	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59730777	1.00[ASN][1000 genomes]
rs60782238	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61483735	1.00[ASN][1000 genomes]
rs6656178	1.00[ASN][1000 genomes]
rs6662177	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6666025	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6680233	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6680659	1.00[ASN][1000 genomes]
rs6683197	1.00[ASN][1000 genomes]
rs6689287	0.92[ASN][1000 genomes]
rs6689608	1.00[ASN][1000 genomes]
rs6698942	1.00[ASN][1000 genomes]
rs6700281	0.85[ASN][1000 genomes]
rs6704159	1.00[ASN][1000 genomes]
rs74146611	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs74147131	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74149426	0.85[ASN][1000 genomes]
rs74149428	0.85[ASN][1000 genomes]
rs74149429	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs74149436	0.92[ASN][1000 genomes]
rs7418261	1.00[ASN][1000 genomes]
rs7527885	0.85[ASN][1000 genomes]
rs7533311	1.00[ASN][1000 genomes]
rs7533616	0.92[ASN][1000 genomes]
rs7535962	1.00[ASN][1000 genomes]
rs7543666	0.96[ASN][1000 genomes]
rs7550540	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs769297	1.00[ASN][1000 genomes]
rs9725252	1.00[ASN][1000 genomes]
rs9919164	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9919334	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv933170	chr14:66945507-67094868	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1052677	chr14:67007414-67123639	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv564954	chr14:67044103-67124785	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1048504	chr14:67053046-67120741	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1046763	chr14:67053046-67123639	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1040770	chr14:67053046-67135147	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv2761841	chr14:67053058-67123651	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1046627	chr14:67059270-67120741	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1049050	chr14:67059270-67123639	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67042000-67067000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67056600-67065800	Weak transcription	Gastric	stomach

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