Variant report

Variant	rs7754583
Chromosome Location	chr6:53849802-53849803
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1041146	0.89[AFR][1000 genomes]
rs1325823	0.86[AFR][1000 genomes]
rs1325824	0.89[AFR][1000 genomes]
rs1359559	0.89[AFR][1000 genomes]
rs1570914	0.89[AFR][1000 genomes]
rs727385	0.89[AFR][1000 genomes]
rs7754712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9382266	0.89[AFR][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr6:53846000-53850600	Weak transcription	Fetal Brain Male	brain
2	chr6:53846400-53852000	Enhancers	HMEC	breast
3	chr6:53846400-53852200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:53846600-53850200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:53846600-53850600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:53847000-53851800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:53847200-53850600	Enhancers	HSMM	muscle
8	chr6:53847400-53850400	Enhancers	NHDF-Ad	bronchial
9	chr6:53847600-53852200	Enhancers	NH-A	brain
10	chr6:53847800-53851000	Enhancers	Hela-S3	cervix
11	chr6:53848200-53850400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:53848400-53850600	Enhancers	NHLF	lung
13	chr6:53848400-53851800	Weak transcription	Right Ventricle	heart
14	chr6:53849000-53850200	Enhancers	Psoas Muscle	Psoas
15	chr6:53849000-53850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:53849200-53850400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:53849200-53850800	Enhancers	HSMMtube	muscle
18	chr6:53849200-53851200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:53849200-53852200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:53849200-53852600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:53849400-53850200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:53849400-53850200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr6:53849800-53851600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:53849800-53851600	Weak transcription	Left Ventricle	heart
25	chr6:53849800-53851800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:53849800-53852000	Enhancers	Osteobl	bone
27	chr6:53849800-53852200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:53849800-53852200	Enhancers	NHEK	skin
29	chr6:53849800-53853200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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