Variant report

Variant	rs7668948
Chromosome Location	chr4:55031639-55031640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17083988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17838983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33988725	1.00[AMR][1000 genomes]
rs4241981	1.00[EUR][1000 genomes]
rs4352534	1.00[EUR][1000 genomes]
rs58015793	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58080484	1.00[EUR][1000 genomes]
rs60639295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277389	1.00[EUR][1000 genomes]
rs61510049	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818057	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829176	1.00[ASN][1000 genomes]
rs73147749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73147754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73147758	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73147760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73147772	1.00[EUR][1000 genomes]
rs73147780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73147784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149516	1.00[EUR][1000 genomes]
rs73818173	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657528	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7658546	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7660482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7689472	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv879020	chr4:54986912-55064573	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv523058	chr4:55018617-55045716	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55018800-55036200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:55030600-55032400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:55030600-55032400	Enhancers	Osteobl	bone
4	chr4:55030600-55033000	Enhancers	HSMM	muscle
5	chr4:55030800-55031800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:55030800-55032000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:55030800-55032400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:55030800-55032400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:55030800-55032400	Enhancers	HMEC	breast
10	chr4:55030800-55032400	Enhancers	HSMMtube	muscle
11	chr4:55030800-55032400	Enhancers	NHDF-Ad	bronchial
12	chr4:55030800-55032600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:55030800-55032600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:55030800-55032600	Enhancers	NHEK	skin
15	chr4:55030800-55032600	Enhancers	NHLF	lung
16	chr4:55031000-55032200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:55031000-55032400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:55031200-55032000	Flanking Active TSS	NH-A	brain
19	chr4:55031200-55032400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:55031200-55032600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:55031200-55032600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:55031400-55031800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:55031400-55032000	Enhancers	A549	lung
24	chr4:55031400-55032000	Enhancers	Hela-S3	cervix
25	chr4:55031400-55032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:55031400-55032600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:55031600-55032200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:55031600-55036200	Weak transcription	Aorta	Aorta

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