Variant report

Variant	rs73113977
Chromosome Location	chr12:64299840-64299841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17099886	0.89[ASN][1000 genomes]
rs17099889	0.90[ASN][1000 genomes]
rs17099893	0.90[ASN][1000 genomes]
rs17099896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4346062	0.90[ASN][1000 genomes]
rs55884087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933086	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933093	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61933094	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61937061	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73126651	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73315387	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64283200-64303000	Weak transcription	NHLF	lung
2	chr12:64283200-64312200	Weak transcription	Left Ventricle	heart
3	chr12:64284200-64309000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:64285400-64306000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:64287200-64307800	Weak transcription	NHDF-Ad	bronchial
6	chr12:64293000-64302800	Weak transcription	Fetal Brain Male	brain
7	chr12:64295600-64308000	Weak transcription	Stomach Mucosa	stomach
8	chr12:64296400-64303200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:64296400-64304000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:64296800-64307800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:64297000-64300600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:64297200-64306000	Weak transcription	Ovary	ovary
13	chr12:64297200-64307800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:64297200-64309400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:64298200-64300000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:64298400-64300000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:64298600-64300000	Enhancers	NHEK	skin
18	chr12:64298800-64300000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:64298800-64300000	Enhancers	Hela-S3	cervix
20	chr12:64298800-64300200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:64298800-64301000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:64299000-64300000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:64299000-64300000	Enhancers	HMEC	breast
25	chr12:64299000-64300000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:64299400-64300000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:64299400-64300000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:64299800-64301600	Weak transcription	A549	lung
29	chr12:64299800-64305400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:64299800-64309000	Weak transcription	Brain Anterior Caudate	brain

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