Variant report

Variant	rs12137455
Chromosome Location	chr1:77893932-77893933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10873938	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10873940	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12122210	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12137672	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	esv1848735	chr1:77885282-77918347	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv871605	chr1:77889505-77918347	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77888000-77897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:77892000-77894000	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr1:77893000-77895200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:77893000-77895800	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr1:77893200-77894200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr1:77893400-77894000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:77893400-77894000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:77893400-77894000	ZNF genes & repeats	Brain Substantia Nigra	brain
10	chr1:77893400-77894200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr1:77893400-77894200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:77893400-77894200	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr1:77893400-77894200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:77893400-77894200	ZNF genes & repeats	HSMM	muscle
15	chr1:77893400-77894200	ZNF genes & repeats	NHDF-Ad	bronchial
16	chr1:77893600-77894000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:77893600-77894000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
18	chr1:77893600-77894000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:77893600-77894000	ZNF genes & repeats	Brain Angular Gyrus	brain
20	chr1:77893600-77894000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
21	chr1:77893600-77894200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr1:77893600-77894200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr1:77893600-77894200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:77893800-77894200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:77893800-77894200	ZNF genes & repeats	HSMMtube	muscle
26	chr1:77893800-77895200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:77893800-77895200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:77893800-77902600	Weak transcription	Osteobl	bone
29	chr1:77893800-77903600	Weak transcription	Brain Hippocampus Middle	brain

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