Variant report

Variant	rs12075295
Chromosome Location	chr1:78950166-78950167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11162496	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11162497	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11485266	1.00[AMR][1000 genomes]
rs11809460	0.80[EUR][1000 genomes]
rs11809462	0.80[EUR][1000 genomes]
rs12067110	0.94[EUR][1000 genomes]
rs12073698	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12074558	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12074955	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12076694	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12077792	0.87[EUR][1000 genomes]
rs12079105	0.86[EUR][1000 genomes]
rs12085484	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12088784	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1322924	0.87[EUR][1000 genomes]
rs1927326	0.87[EUR][1000 genomes]
rs28791033	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57205467	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58034089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58858806	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59584643	1.00[AMR][1000 genomes]
rs60047746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61388935	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78949400-78950200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:78949400-78950200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:78949400-78950200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:78949400-78950200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:78949400-78950200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:78949400-78950400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78949600-78950200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:78949600-78950200	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:78949600-78950400	ZNF genes & repeats	Spleen	Spleen
10	chr1:78949800-78950200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:78949800-78955600	Weak transcription	NHDF-Ad	bronchial
12	chr1:78950000-78950200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:78950000-78950200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:78950000-78950200	Enhancers	Hela-S3	cervix
15	chr1:78950000-78951000	Weak transcription	HSMM	muscle
16	chr1:78950000-78956200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:78950000-78956200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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