Variant report

Variant	rs72936978
Chromosome Location	chr3:50446361-50446362
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17050967	0.87[AFR][1000 genomes]
rs17050976	0.86[AFR][1000 genomes]
rs17050977	0.83[AFR][1000 genomes]
rs57278600	0.82[AFR][1000 genomes]
rs58124375	1.00[AMR][1000 genomes]
rs58407586	1.00[AMR][1000 genomes]
rs59112948	1.00[AMR][1000 genomes]
rs59336516	1.00[AMR][1000 genomes]
rs59896933	1.00[AMR][1000 genomes]
rs60564525	1.00[AMR][1000 genomes]
rs61275090	0.81[AFR][1000 genomes]
rs61601450	0.82[AFR][1000 genomes]
rs61638172	1.00[AMR][1000 genomes]
rs72931482	1.00[AMR][1000 genomes]
rs72932915	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932918	1.00[AMR][1000 genomes]
rs72932925	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932966	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932994	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934827	0.81[AFR][1000 genomes]
rs72934830	0.83[AFR][1000 genomes]
rs72934833	0.83[AFR][1000 genomes]
rs72936957	0.86[AFR][1000 genomes]
rs72936959	0.86[AFR][1000 genomes]
rs72936962	0.86[AFR][1000 genomes]
rs72936964	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936972	0.86[AFR][1000 genomes]
rs72936980	0.86[AFR][1000 genomes]
rs72938724	1.00[AMR][1000 genomes]
rs72938734	1.00[AMR][1000 genomes]
rs72938735	1.00[AMR][1000 genomes]
rs72938738	1.00[AMR][1000 genomes]
rs72938740	1.00[AMR][1000 genomes]
rs72938750	1.00[AMR][1000 genomes]
rs72940706	1.00[AMR][1000 genomes]
rs72942760	1.00[AMR][1000 genomes]
rs7611074	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
6	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv876778	chr3:50413707-50465518	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
14	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr3:50442200-50450800	Enhancers	Brain Germinal Matrix	brain
2	chr3:50443600-50460400	Weak transcription	Gastric	stomach
3	chr3:50445400-50446600	Enhancers	Fetal Muscle Leg	muscle
4	chr3:50445400-50448800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:50445600-50446400	Enhancers	Fetal Muscle Trunk	muscle
6	chr3:50445600-50471400	Weak transcription	Spleen	Spleen
7	chr3:50445800-50446400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:50445800-50446400	Enhancers	Fetal Brain Female	brain
9	chr3:50446000-50446400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:50446000-50447000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:50446200-50446400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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