Variant report

Variant	rs74077591
Chromosome Location	chr12:41801679-41801680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10161143	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10506199	1.00[EUR][1000 genomes]
rs10506200	1.00[EUR][1000 genomes]
rs11180971	0.88[AMR][1000 genomes]
rs12298553	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12299762	0.95[ASN][1000 genomes]
rs12300549	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12305318	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12305552	0.93[ASN][1000 genomes]
rs12307517	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12310611	1.00[EUR][1000 genomes]
rs12314242	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12314805	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1350433	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1379778	0.81[AMR][1000 genomes]
rs1458155	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17129305	1.00[EUR][1000 genomes]
rs17129351	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17129364	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17129405	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17129413	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17129441	0.83[AMR][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]
rs1817270	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1918224	1.00[EUR][1000 genomes]
rs2034922	0.83[AMR][1000 genomes]
rs2405924	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2897270	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35577124	0.88[AMR][1000 genomes]
rs3761676	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4635145	0.88[AMR][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[EUR][1000 genomes]
rs56146127	1.00[EUR][1000 genomes]
rs56185948	1.00[EUR][1000 genomes]
rs56261613	1.00[EUR][1000 genomes]
rs56290808	1.00[EUR][1000 genomes]
rs56394503	0.84[ASN][1000 genomes]
rs57395098	1.00[EUR][1000 genomes]
rs57534395	1.00[EUR][1000 genomes]
rs57596398	1.00[EUR][1000 genomes]
rs57905058	1.00[EUR][1000 genomes]
rs57991277	0.83[AMR][1000 genomes]
rs58063208	1.00[EUR][1000 genomes]
rs58072732	1.00[EUR][1000 genomes]
rs58152936	1.00[EUR][1000 genomes]
rs58194527	1.00[EUR][1000 genomes]
rs58372295	1.00[EUR][1000 genomes]
rs58573939	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58740899	1.00[EUR][1000 genomes]
rs59080960	1.00[EUR][1000 genomes]
rs59441074	1.00[EUR][1000 genomes]
rs59508383	1.00[EUR][1000 genomes]
rs59662716	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59834004	1.00[EUR][1000 genomes]
rs60079864	1.00[EUR][1000 genomes]
rs60114889	1.00[EUR][1000 genomes]
rs60304731	1.00[EUR][1000 genomes]
rs60903037	0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60954648	1.00[EUR][1000 genomes]
rs61024587	1.00[EUR][1000 genomes]
rs61065876	1.00[EUR][1000 genomes]
rs61152857	1.00[EUR][1000 genomes]
rs61200818	1.00[EUR][1000 genomes]
rs61518477	1.00[EUR][1000 genomes]
rs6582337	0.88[AMR][1000 genomes]
rs713288	0.84[AMR][1000 genomes]
rs7133340	0.95[ASN][1000 genomes]
rs7133757	1.00[EUR][1000 genomes]
rs7134836	1.00[EUR][1000 genomes]
rs7297699	0.93[AMR][1000 genomes];0.95[ASN][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]
rs7307387	0.88[AMR][1000 genomes]
rs7316657	1.00[EUR][1000 genomes]
rs731979	0.88[AMR][1000 genomes]
rs73274484	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73278055	0.91[AMR][1000 genomes];0.87[ASN][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[EUR][1000 genomes]
rs74077549	1.00[EUR][1000 genomes]
rs74077579	1.00[EUR][1000 genomes]
rs74077585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74077803	1.00[EUR][1000 genomes]
rs74077884	1.00[EUR][1000 genomes]
rs74077888	1.00[EUR][1000 genomes]
rs74078811	1.00[EUR][1000 genomes]
rs74078815	1.00[EUR][1000 genomes]
rs74078816	1.00[EUR][1000 genomes]
rs74078827	1.00[EUR][1000 genomes]
rs74078828	1.00[EUR][1000 genomes]
rs74078833	1.00[EUR][1000 genomes]
rs74078836	1.00[EUR][1000 genomes]
rs74078838	1.00[EUR][1000 genomes]
rs74078839	1.00[EUR][1000 genomes]
rs74078840	1.00[EUR][1000 genomes]
rs74078841	1.00[EUR][1000 genomes]
rs74078844	1.00[EUR][1000 genomes]
rs74078850	1.00[EUR][1000 genomes]
rs74078852	1.00[EUR][1000 genomes]
rs74078861	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]
rs74079848	1.00[EUR][1000 genomes]
rs74079849	1.00[EUR][1000 genomes]
rs74079850	1.00[EUR][1000 genomes]
rs74079851	1.00[EUR][1000 genomes]
rs74079852	1.00[EUR][1000 genomes]
rs74079853	1.00[EUR][1000 genomes]
rs74079855	1.00[EUR][1000 genomes]
rs74079857	1.00[EUR][1000 genomes]
rs74079859	1.00[EUR][1000 genomes]
rs74079861	1.00[EUR][1000 genomes]
rs7960293	0.88[AMR][1000 genomes]
rs7966351	0.84[ASN][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41800600-41801800	Enhancers	Fetal Brain Female	brain
2	chr12:41800600-41802200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:41801000-41801800	Flanking Active TSS	Brain Cingulate Gyrus	brain
4	chr12:41801400-41801800	Active TSS	Brain Hippocampus Middle	brain
5	chr12:41801600-41801800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:41801600-41801800	Enhancers	Brain Germinal Matrix	brain
7	chr12:41801600-41802000	Active TSS	Brain Anterior Caudate	brain
8	chr12:41801600-41805000	Weak transcription	Fetal Brain Male	brain

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