Variant report

Variant	rs3112827
Chromosome Location	chr1:77914669-77914670
allele	A/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:17)

rs_ID	r²[population]
rs12044354	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12047928	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12066994	0.84[EUR][1000 genomes]
rs12741939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1498405	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1874817	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1874819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2221084	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2247536	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2247742	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2251456	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2647506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2803162	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3112826	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121778	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6704141	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77907000-77916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:77907800-77927000	Weak transcription	HSMMtube	muscle
3	chr1:77908400-77915600	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:77908400-77916200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:77911000-77925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:77911200-77934000	Weak transcription	HSMM	muscle
7	chr1:77912800-77925000	Weak transcription	NHDF-Ad	bronchial
8	chr1:77913000-77934400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:77913200-77930000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:77913200-77937000	Weak transcription	Primary T cells from cord blood	blood
11	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:77913400-77929400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:77913600-77915000	Enhancers	Colonic Mucosa	Colon
14	chr1:77913800-77914800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:77913800-77915600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:77914000-77915200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:77914000-77924400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:77914200-77915000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:77914600-77918200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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