Variant report

Variant	rs73197878
Chromosome Location	chr12:87506645-87506646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 196 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs10858556	1.00[EUR][1000 genomes]
rs11104222	1.00[EUR][1000 genomes]
rs11104241	1.00[EUR][1000 genomes]
rs11104353	0.95[EUR][1000 genomes]
rs11608450	1.00[EUR][1000 genomes]
rs11608474	1.00[EUR][1000 genomes]
rs11608968	1.00[AMR][1000 genomes]
rs11609545	1.00[EUR][1000 genomes]
rs11609577	1.00[EUR][1000 genomes]
rs11609959	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11610000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11610202	1.00[EUR][1000 genomes]
rs11610236	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11610240	1.00[EUR][1000 genomes]
rs11610610	1.00[EUR][1000 genomes]
rs11611298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11611539	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11612996	1.00[EUR][1000 genomes]
rs11613608	1.00[EUR][1000 genomes]
rs11614902	1.00[EUR][1000 genomes]
rs11615280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11615328	1.00[EUR][1000 genomes]
rs11615381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099694	1.00[EUR][1000 genomes]
rs12099773	1.00[EUR][1000 genomes]
rs12099774	1.00[EUR][1000 genomes]
rs12301215	1.00[EUR][1000 genomes]
rs17014343	1.00[EUR][1000 genomes]
rs17014345	1.00[EUR][1000 genomes]
rs17014347	1.00[EUR][1000 genomes]
rs17014352	1.00[EUR][1000 genomes]
rs17014355	1.00[EUR][1000 genomes]
rs17014357	1.00[EUR][1000 genomes]
rs17014359	1.00[EUR][1000 genomes]
rs17014361	1.00[EUR][1000 genomes]
rs17014363	1.00[EUR][1000 genomes]
rs17014366	1.00[EUR][1000 genomes]
rs17014369	1.00[EUR][1000 genomes]
rs17014430	1.00[EUR][1000 genomes]
rs28438801	0.89[EUR][1000 genomes]
rs34212176	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35772317	1.00[EUR][1000 genomes]
rs55675470	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55676823	1.00[EUR][1000 genomes]
rs55742281	0.89[EUR][1000 genomes]
rs55768272	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55778807	1.00[EUR][1000 genomes]
rs55844216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56212508	0.89[EUR][1000 genomes]
rs56337441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56350179	1.00[EUR][1000 genomes]
rs59432611	0.89[EUR][1000 genomes]
rs60530487	1.00[EUR][1000 genomes]
rs60718562	1.00[EUR][1000 genomes]
rs61619114	0.89[EUR][1000 genomes]
rs66473769	0.89[EUR][1000 genomes]
rs66489945	0.95[EUR][1000 genomes]
rs66507120	1.00[EUR][1000 genomes]
rs66520580	0.95[EUR][1000 genomes]
rs66543122	1.00[EUR][1000 genomes]
rs66569903	1.00[EUR][1000 genomes]
rs66574092	1.00[EUR][1000 genomes]
rs66589206	1.00[EUR][1000 genomes]
rs66606466	1.00[EUR][1000 genomes]
rs66624731	1.00[EUR][1000 genomes]
rs66629114	0.89[EUR][1000 genomes]
rs66680519	0.89[EUR][1000 genomes]
rs66721237	1.00[EUR][1000 genomes]
rs66721487	0.95[EUR][1000 genomes]
rs66739429	1.00[EUR][1000 genomes]
rs66761801	1.00[EUR][1000 genomes]
rs66796553	1.00[EUR][1000 genomes]
rs66824103	0.89[EUR][1000 genomes]
rs66881017	1.00[EUR][1000 genomes]
rs66920061	1.00[EUR][1000 genomes]
rs66935924	1.00[EUR][1000 genomes]
rs66952248	1.00[EUR][1000 genomes]
rs66983270	1.00[EUR][1000 genomes]
rs66995551	1.00[EUR][1000 genomes]
rs67126124	1.00[EUR][1000 genomes]
rs67136611	1.00[EUR][1000 genomes]
rs67152262	1.00[EUR][1000 genomes]
rs67224165	0.89[EUR][1000 genomes]
rs67261476	1.00[EUR][1000 genomes]
rs67311221	1.00[EUR][1000 genomes]
rs67347619	0.89[EUR][1000 genomes]
rs67399263	1.00[EUR][1000 genomes]
rs67407309	1.00[EUR][1000 genomes]
rs67429282	1.00[EUR][1000 genomes]
rs67448624	1.00[EUR][1000 genomes]
rs67535999	1.00[EUR][1000 genomes]
rs67562061	1.00[EUR][1000 genomes]
rs67639118	1.00[EUR][1000 genomes]
rs67642342	1.00[EUR][1000 genomes]
rs67651962	0.95[EUR][1000 genomes]
rs67654202	0.89[EUR][1000 genomes]
rs67687334	1.00[EUR][1000 genomes]
rs67691941	1.00[EUR][1000 genomes]
rs67735893	1.00[EUR][1000 genomes]
rs67748606	0.90[EUR][1000 genomes]
rs67751006	1.00[EUR][1000 genomes]
rs67755243	1.00[EUR][1000 genomes]
rs67768352	1.00[EUR][1000 genomes]
rs67823383	1.00[EUR][1000 genomes]
rs67825879	0.89[EUR][1000 genomes]
rs67840505	1.00[EUR][1000 genomes]
rs67964737	0.95[EUR][1000 genomes]
rs67980276	1.00[EUR][1000 genomes]
rs67982985	1.00[EUR][1000 genomes]
rs68008015	1.00[EUR][1000 genomes]
rs68009363	1.00[EUR][1000 genomes]
rs68030146	1.00[EUR][1000 genomes]
rs68133325	1.00[EUR][1000 genomes]
rs68145579	0.90[EUR][1000 genomes]
rs68166481	0.86[EUR][1000 genomes]
rs71078956	1.00[EUR][1000 genomes]
rs7305593	1.00[EUR][1000 genomes]
rs73175412	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73175417	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73175427	0.89[EUR][1000 genomes]
rs73175466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175468	1.00[EUR][1000 genomes]
rs73175469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175480	1.00[EUR][1000 genomes]
rs73175482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175494	1.00[EUR][1000 genomes]
rs73175495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73179835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73179837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73179847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73179849	1.00[EUR][1000 genomes]
rs73179855	1.00[EUR][1000 genomes]
rs73179857	0.90[EUR][1000 genomes]
rs73181416	1.00[EUR][1000 genomes]
rs73181421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181428	1.00[EUR][1000 genomes]
rs73181432	1.00[EUR][1000 genomes]
rs73181435	1.00[EUR][1000 genomes]
rs73181437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181441	0.90[EUR][1000 genomes]
rs73191081	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73192706	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73192712	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73192720	0.89[EUR][1000 genomes]
rs73192732	0.89[EUR][1000 genomes]
rs73192735	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73192741	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73192749	0.89[EUR][1000 genomes]
rs73192750	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73192753	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73192760	0.89[EUR][1000 genomes]
rs73192766	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73194307	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194312	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194315	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194345	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194353	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194356	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194359	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194369	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194373	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73194374	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73197888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73197891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73197895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199707	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73199710	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899397	chr12:86863041-87636831	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868879	chr12:87207243-87578373	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1052693	chr12:87219949-87573582	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv899403	chr12:87225050-87528020	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv899406	chr12:87233995-87528020	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv899407	chr12:87254691-87506910	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv519543	chr12:87307329-87528020	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv899409	chr12:87319908-87506910	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv899410	chr12:87319908-87528020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv899412	chr12:87346094-87506910	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv899414	chr12:87378980-87506910	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv899415	chr12:87442480-87528020	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv899416	chr12:87442480-87588533	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv559700	chr12:87447757-87509441	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1043758	chr12:87474612-87515109	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv899417	chr12:87475632-87588533	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv976754	chr12:87499593-87510046	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1036043	chr12:87503257-87592799	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87502600-87510600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:87503000-87506800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:87505800-87507000	Enhancers	Fetal Brain Male	brain
4	chr12:87506200-87509400	Weak transcription	Fetal Brain Female	brain
5	chr12:87506600-87507000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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