Variant report

Variant	rs72938734
Chromosome Location	chr3:50528441-50528442
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50526587..50528932-chr3:50530037..50531864,2	MCF-7	breast:
2	chr3:50526765..50528739-chr3:50533687..50536379,2	MCF-7	breast:
3	chr3:50525621..50528608-chr3:50539997..50541654,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007402	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58124375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58407586	1.00[AMR][1000 genomes]
rs59164803	0.81[AFR][1000 genomes]
rs59336516	1.00[AMR][1000 genomes]
rs59896933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60204288	1.00[AMR][1000 genomes]
rs61638172	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932918	1.00[AMR][1000 genomes]
rs72932925	1.00[AMR][1000 genomes]
rs72932949	1.00[AMR][1000 genomes]
rs72932966	1.00[AMR][1000 genomes]
rs72932994	1.00[AMR][1000 genomes]
rs72934811	1.00[AMR][1000 genomes]
rs72936964	1.00[AMR][1000 genomes]
rs72936978	1.00[AMR][1000 genomes]
rs72938724	1.00[AMR][1000 genomes]
rs72938735	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938740	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938750	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940706	1.00[AMR][1000 genomes]
rs72942760	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr3:50520400-50530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:50522000-50533600	Weak transcription	Lung	lung
3	chr3:50527200-50529200	Enhancers	Fetal Muscle Leg	muscle
4	chr3:50527200-50529400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:50527400-50529200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:50527400-50529400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr3:50527400-50529800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:50527600-50529400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:50527600-50529600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:50527600-50530000	Enhancers	Right Ventricle	heart
11	chr3:50527800-50528800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50527800-50529400	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:50527800-50529600	Enhancers	Fetal Thymus	thymus
14	chr3:50527800-50529800	Enhancers	Left Ventricle	heart
15	chr3:50528000-50528600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:50528000-50528600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:50528000-50529000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:50528000-50529000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:50528000-50529000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:50528000-50529000	Enhancers	Right Atrium	heart
21	chr3:50528000-50529000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:50528000-50529000	Enhancers	Thymus	Thymus
23	chr3:50528000-50532800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:50528200-50528600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:50528200-50529000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr3:50528200-50529200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:50528400-50529000	Enhancers	Gastric	stomach
28	chr3:50528400-50529200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:50528400-50529800	Enhancers	Fetal Heart	heart

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