Variant report

Variant	rs72936957
Chromosome Location	chr3:50432368-50432369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50420710..50423893-chr3:50432080..50434789,3	MCF-7	breast:
2	chr3:50430686..50433104-chr3:50437469..50439018,2	MCF-7	breast:
3	chr3:50401924..50404224-chr3:50431780..50433415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271858	Chromatin interaction
ENSG00000007402	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17050967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050977	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57278600	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113322	0.88[AFR][1000 genomes]
rs59164803	1.00[AMR][1000 genomes]
rs61601450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932994	0.82[AFR][1000 genomes]
rs72934837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936978	0.86[AFR][1000 genomes]
rs72936980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936982	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936987	0.85[AFR][1000 genomes]
rs72936989	0.88[AFR][1000 genomes]
rs72937000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937001	0.88[AFR][1000 genomes]
rs72938708	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938712	0.82[AFR][1000 genomes]
rs72938719	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
9	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' 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	93 gene(s)	inside rSNPs	diseases
10	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv590271	chr3:50420554-50436716	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50424000-50433000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:50426400-50438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:50426600-50434000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:50428800-50434800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:50429000-50432600	Weak transcription	Fetal Intestine Large	intestine
6	chr3:50429000-50433200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:50429200-50433400	Weak transcription	Fetal Brain Female	brain
8	chr3:50429400-50432800	Weak transcription	Placenta	Placenta
9	chr3:50429400-50433000	Weak transcription	Fetal Intestine Small	intestine
10	chr3:50429600-50432600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:50429800-50432600	Weak transcription	Spleen	Spleen
12	chr3:50430000-50432800	Weak transcription	Stomach Mucosa	stomach
13	chr3:50430200-50432600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:50430400-50432800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr3:50430800-50432400	Weak transcription	Right Ventricle	heart
16	chr3:50430800-50434200	Weak transcription	Right Atrium	heart
17	chr3:50431000-50433000	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:50431000-50435400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:50431200-50433400	Weak transcription	Lung	lung
20	chr3:50431200-50442000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:50431400-50434600	Weak transcription	Brain Germinal Matrix	brain
22	chr3:50431800-50432600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:50432200-50432400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:50432200-50432400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:50432200-50432800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:50432200-50432800	Enhancers	Pancreas	Pancrea
27	chr3:50432200-50433000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:50432200-50433600	Enhancers	Primary monocytes fromperipheralblood	blood

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