Variant report

Variant	rs12142918
Chromosome Location	chr1:77852115-77852116
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11162331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162333	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12132133	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12401953	0.90[AMR][1000 genomes]
rs17100521	0.99[ASN][1000 genomes]
rs3896706	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911801	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6689581	0.86[ASN][1000 genomes]
rs6694630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518696	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7520851	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77839000-77854000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:77845000-77853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:77845200-77853400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:77845200-77860000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:77845200-77878000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:77845200-77878400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:77845400-77852400	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:77846400-77859200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:77846600-77853600	Weak transcription	NHLF	lung
10	chr1:77847400-77860200	Weak transcription	HSMM	muscle
11	chr1:77848400-77859400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:77851200-77852400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:77851200-77852800	Enhancers	NHDF-Ad	bronchial
14	chr1:77851600-77852800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:77851600-77852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:77851800-77854800	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:77851800-77854800	Enhancers	Brain Substantia Nigra	brain
18	chr1:77852000-77852200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:77852000-77852200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:77852000-77852200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:77852000-77852200	ZNF genes & repeats	Aorta	Aorta
22	chr1:77852000-77852600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:77852000-77853400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:77852000-77854800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:77852000-77854800	Enhancers	Brain Anterior Caudate	brain
26	chr1:77852000-77855000	Enhancers	Brain Angular Gyrus	brain
27	chr1:77852000-77855000	Enhancers	Brain Inferior Temporal Lobe	brain

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