Variant report

Variant	rs56261613
Chromosome Location	chr12:41972867-41972868
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

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]
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]
rs7300654	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]
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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41966200-41973000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:41966600-41973000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:41967000-41975600	Weak transcription	Aorta	Aorta
4	chr12:41967400-41976600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:41967600-41973200	Weak transcription	Brain Germinal Matrix	brain
6	chr12:41968400-41975400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:41969400-41973000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:41972000-41973400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:41972400-41973000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:41972400-41973200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:41972600-41973000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:41972600-41973000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr12:41972600-41973000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:41972600-41973000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:41972600-41973000	Flanking Active TSS	Fetal Kidney	kidney
16	chr12:41972800-41973200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:41972800-41973200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:41972800-41973200	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:41972800-41973400	Enhancers	Brain Hippocampus Middle	brain

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