Variant report

Variant	rs60954648
Chromosome Location	chr12:41793780-41793781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10506199	1.00[EUR][1000 genomes]
rs10506200	1.00[EUR][1000 genomes]
rs12310611	1.00[EUR][1000 genomes]
rs17129305	1.00[EUR][1000 genomes]
rs17129486	1.00[EUR][1000 genomes]
rs17129531	1.00[EUR][1000 genomes]
rs17129534	1.00[EUR][1000 genomes]
rs17129537	1.00[EUR][1000 genomes]
rs17129541	1.00[EUR][1000 genomes]
rs1918224	1.00[EUR][1000 genomes]
rs55724233	1.00[EUR][1000 genomes]
rs55792075	1.00[EUR][1000 genomes]
rs55884504	1.00[EUR][1000 genomes]
rs55968872	1.00[EUR][1000 genomes]
rs56017096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56146127	1.00[EUR][1000 genomes]
rs56185948	1.00[EUR][1000 genomes]
rs56261613	1.00[EUR][1000 genomes]
rs56290808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57395098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57534395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57596398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57905058	1.00[EUR][1000 genomes]
rs58063208	1.00[EUR][1000 genomes]
rs58072732	1.00[EUR][1000 genomes]
rs58152936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58194527	1.00[EUR][1000 genomes]
rs58372295	1.00[EUR][1000 genomes]
rs58573939	1.00[EUR][1000 genomes]
rs58740899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59080960	1.00[EUR][1000 genomes]
rs59441074	1.00[EUR][1000 genomes]
rs59508383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59662716	1.00[EUR][1000 genomes]
rs59834004	1.00[EUR][1000 genomes]
rs59916835	1.00[AMR][1000 genomes]
rs60079864	1.00[EUR][1000 genomes]
rs60114889	1.00[EUR][1000 genomes]
rs60304731	1.00[EUR][1000 genomes]
rs61024587	1.00[EUR][1000 genomes]
rs61065876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61152857	1.00[EUR][1000 genomes]
rs61200818	1.00[EUR][1000 genomes]
rs61518477	1.00[EUR][1000 genomes]
rs7133757	1.00[EUR][1000 genomes]
rs7134836	1.00[EUR][1000 genomes]
rs7299844	1.00[EUR][1000 genomes]
rs7300013	1.00[EUR][1000 genomes]
rs7300654	1.00[EUR][1000 genomes]
rs7303110	1.00[EUR][1000 genomes]
rs7304463	1.00[EUR][1000 genomes]
rs7316657	1.00[EUR][1000 genomes]
rs73274484	1.00[EUR][1000 genomes]
rs73282231	1.00[EUR][1000 genomes]
rs73282241	1.00[EUR][1000 genomes]
rs73282253	1.00[EUR][1000 genomes]
rs73282257	1.00[EUR][1000 genomes]
rs73282264	1.00[EUR][1000 genomes]
rs74077504	1.00[EUR][1000 genomes]
rs74077541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74077549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74077579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74077585	1.00[EUR][1000 genomes]
rs74077591	1.00[EUR][1000 genomes]
rs74077803	1.00[EUR][1000 genomes]
rs74077884	1.00[EUR][1000 genomes]
rs74077888	1.00[EUR][1000 genomes]
rs74078811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078838	1.00[EUR][1000 genomes]
rs74078839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078850	1.00[EUR][1000 genomes]
rs74078852	1.00[EUR][1000 genomes]
rs74078861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079517	1.00[EUR][1000 genomes]
rs74079833	1.00[EUR][1000 genomes]
rs74079834	1.00[EUR][1000 genomes]
rs74079835	1.00[EUR][1000 genomes]
rs74079837	1.00[EUR][1000 genomes]
rs74079839	1.00[EUR][1000 genomes]
rs74079840	1.00[EUR][1000 genomes]
rs74079841	1.00[EUR][1000 genomes]
rs74079843	1.00[EUR][1000 genomes]
rs74079844	1.00[EUR][1000 genomes]
rs7973520	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv899036	chr12:41777144-41807859	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv899037	chr12:41777144-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1044910	chr12:41778831-41813198	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv2761735	chr12:41780758-41811938	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv2757501	chr12:41780758-41816002	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv2759896	chr12:41780758-41816002	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv2755020	chr12:41780758-41820936	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv899038	chr12:41784137-41819215	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv818915	chr12:41784997-41811063	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
12	nsv899039	chr12:41784997-41813207	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv1050627	chr12:41789891-41809009	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41793600-41794200	Enhancers	Brain Substantia Nigra	brain
2	chr12:41793600-41794400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:41793600-41794400	Enhancers	Brain Germinal Matrix	brain

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