Variant report

Variant	rs7300654
Chromosome Location	chr12:41973254-41973255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41968071..41969838-chr12:41973138..41974910,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10082904	1.00[EUR][1000 genomes]
rs10506199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17129486	1.00[EUR][1000 genomes]
rs17129531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17129534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17129537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17129541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285564	0.85[AFR][1000 genomes]
rs55724233	1.00[EUR][1000 genomes]
rs55792075	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55856507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55884504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55968872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017096	1.00[EUR][1000 genomes]
rs56146127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56185948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56261613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56290808	1.00[EUR][1000 genomes]
rs56794218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57395098	1.00[EUR][1000 genomes]
rs57546774	1.00[AFR][1000 genomes]
rs57596398	1.00[EUR][1000 genomes]
rs57751766	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58063208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58072732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58194527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58372295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58573939	1.00[EUR][1000 genomes]
rs58740899	1.00[EUR][1000 genomes]
rs59441074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59508383	1.00[EUR][1000 genomes]
rs59662716	1.00[EUR][1000 genomes]
rs59834004	1.00[EUR][1000 genomes]
rs60079864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60304731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60954648	1.00[EUR][1000 genomes]
rs60979113	0.85[AMR][1000 genomes]
rs61024587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61152857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61200818	1.00[EUR][1000 genomes]
rs61518477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133757	1.00[EUR][1000 genomes]
rs7134836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7316657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270611	1.00[EUR][1000 genomes]
rs73274484	1.00[EUR][1000 genomes]
rs73282231	1.00[EUR][1000 genomes]
rs73282241	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74077579	1.00[EUR][1000 genomes]
rs74077585	1.00[EUR][1000 genomes]
rs74077591	1.00[EUR][1000 genomes]
rs74077803	1.00[EUR][1000 genomes]
rs74077884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74077888	1.00[EUR][1000 genomes]
rs74078220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078221	1.00[EUR][1000 genomes]
rs74078239	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078240	1.00[EUR][1000 genomes]
rs74078256	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]
rs74079833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41967000-41975600	Weak transcription	Aorta	Aorta
2	chr12:41967400-41976600	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:41968400-41975400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:41972000-41973400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:41972800-41973400	Enhancers	Brain Hippocampus Middle	brain
6	chr12:41973000-41973400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr12:41973000-41973400	Enhancers	Fetal Lung	lung
8	chr12:41973000-41973600	Enhancers	Fetal Kidney	kidney
9	chr12:41973000-41974000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:41973000-41974600	Enhancers	Fetal Heart	heart
11	chr12:41973200-41973400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:41973200-41973400	Enhancers	Brain Germinal Matrix	brain

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