Variant report

Variant	rs1538766
Chromosome Location	chr1:78742628-78742629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10735752	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1328446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1340158	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2149276	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2351915	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2351916	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2352036	1.00[AMR][1000 genomes]
rs7540964	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2763564	chr1:78727900-78747540	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2762158	chr1:78734241-78747540	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78734800-78749400	Weak transcription	Liver	Liver
2	chr1:78739800-78743200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:78740000-78747000	Enhancers	Osteobl	bone
4	chr1:78740200-78742800	Enhancers	HSMM	muscle
5	chr1:78740200-78743200	Enhancers	HSMMtube	muscle
6	chr1:78740200-78745200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:78740400-78743200	Enhancers	Fetal Muscle Leg	muscle
8	chr1:78740400-78745600	Enhancers	NH-A	brain
9	chr1:78740400-78746800	Enhancers	HMEC	breast
10	chr1:78740400-78747000	Enhancers	NHDF-Ad	bronchial
11	chr1:78740800-78742800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:78741000-78746800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:78741000-78747000	Enhancers	NHLF	lung
14	chr1:78741400-78746400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:78741800-78742800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:78741800-78746400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:78742600-78742800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:78742600-78743400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:78742600-78743400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:78742600-78743800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:78742600-78744200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:78742600-78747000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:78742600-78747000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:78742600-78747600	Enhancers	Hela-S3	cervix

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