Variant report

Variant	rs60005322
Chromosome Location	chr4:129930903-129930904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs55707740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55753141	1.00[AMR][1000 genomes]
rs55764329	0.91[AFR][1000 genomes]
rs55955516	1.00[AFR][1000 genomes]
rs56002856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56069250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56721576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57243721	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57542268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58053026	0.91[AFR][1000 genomes]
rs58701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60227965	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61267810	1.00[AFR][1000 genomes]
rs61700015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846989	1.00[AMR][1000 genomes]
rs73846992	1.00[AMR][1000 genomes]
rs73846993	1.00[AMR][1000 genomes]
rs73846994	1.00[AMR][1000 genomes]
rs73846999	1.00[AMR][1000 genomes]
rs73847304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847305	1.00[AFR][1000 genomes]
rs73847307	0.83[AFR][1000 genomes]
rs73847310	0.91[AFR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847356	0.91[AFR][1000 genomes]
rs73847358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847383	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847391	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847395	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847398	0.83[AFR][1000 genomes]
rs73847399	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848934	1.00[AFR][1000 genomes]
rs73850005	1.00[AMR][1000 genomes]
rs73850009	1.00[AMR][1000 genomes]
rs73850010	1.00[AMR][1000 genomes]
rs73850011	1.00[AMR][1000 genomes]
rs73850012	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850013	1.00[AMR][1000 genomes]
rs73850015	1.00[AMR][1000 genomes]
rs73850016	1.00[AMR][1000 genomes]
rs73850017	1.00[AMR][1000 genomes]
rs73850018	1.00[AMR][1000 genomes]
rs73850019	1.00[AMR][1000 genomes]
rs73850027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850062	0.91[AFR][1000 genomes]
rs73850063	0.91[AFR][1000 genomes]
rs73850064	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129868200-129935600	Weak transcription	HSMM	muscle
2	chr4:129906200-129935800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:129911400-129936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129917400-129935800	Weak transcription	Pancreas	Pancrea
5	chr4:129917400-129936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:129917400-129936200	Weak transcription	Left Ventricle	heart
7	chr4:129917400-129942400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:129920600-129936000	Weak transcription	Fetal Thymus	thymus
9	chr4:129930200-129935800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:129930800-129931600	Enhancers	Dnd41	blood
11	chr4:129930800-129936200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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