Variant report

Variant	rs56241141
Chromosome Location	chr12:29609314-29609315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11050234	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050237	1.00[ASN][1000 genomes]
rs11050247	0.98[ASN][1000 genomes]
rs11609415	1.00[ASN][1000 genomes]
rs11610542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610605	0.82[ASN][1000 genomes]
rs11611065	1.00[ASN][1000 genomes]
rs11611499	1.00[ASN][1000 genomes]
rs11611830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11613142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11614232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614288	1.00[ASN][1000 genomes]
rs11614744	0.82[ASN][1000 genomes]
rs11829375	0.82[ASN][1000 genomes]
rs11831164	0.82[ASN][1000 genomes]
rs11833098	0.82[ASN][1000 genomes]
rs1369899	0.82[ASN][1000 genomes]
rs1436314	0.82[ASN][1000 genomes]
rs2042512	0.82[ASN][1000 genomes]
rs28560462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34137040	0.82[ASN][1000 genomes]
rs35198374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35494573	0.98[ASN][1000 genomes]
rs56179940	1.00[ASN][1000 genomes]
rs58171188	0.96[ASN][1000 genomes]
rs58359809	1.00[ASN][1000 genomes]
rs59273552	1.00[ASN][1000 genomes]
rs6487820	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6487826	1.00[ASN][1000 genomes]
rs6487827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138552	1.00[ASN][1000 genomes]
rs7296554	1.00[ASN][1000 genomes]
rs7297234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297659	0.82[ASN][1000 genomes]
rs7301354	0.82[ASN][1000 genomes]
rs7302549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302700	1.00[ASN][1000 genomes]
rs7311051	1.00[ASN][1000 genomes]
rs7311329	0.85[ASN][1000 genomes]
rs7312547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312776	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7313307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276833	0.82[ASN][1000 genomes]
rs73276902	0.82[ASN][1000 genomes]
rs73278706	0.82[ASN][1000 genomes]
rs73278734	1.00[ASN][1000 genomes]
rs73278736	1.00[ASN][1000 genomes]
rs73278740	1.00[ASN][1000 genomes]
rs7489238	1.00[ASN][1000 genomes]
rs7953181	1.00[ASN][1000 genomes]
rs7965185	0.88[ASN][1000 genomes]
rs7967676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7977826	0.82[ASN][1000 genomes]
rs7978026	0.82[ASN][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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
4	chr12:29594200-29614000	Weak transcription	Left Ventricle	heart
5	chr12:29598400-29657400	Weak transcription	HSMM	muscle
6	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
8	chr12:29604200-29655400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:29605000-29613600	Weak transcription	HSMMtube	muscle
10	chr12:29607200-29609800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:29608200-29622000	Weak transcription	Brain Anterior Caudate	brain
12	chr12:29608600-29609800	Enhancers	Brain Substantia Nigra	brain
13	chr12:29608600-29610200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:29608600-29624800	Weak transcription	Pancreas	Pancrea
15	chr12:29608800-29627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:29609000-29609600	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:29609000-29609800	Enhancers	Brain Angular Gyrus	brain
18	chr12:29609200-29612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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