Variant report

Variant	rs60023566
Chromosome Location	chr3:120225802-120225803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120137528..120138028-chr3:120225631..120226256,2	MCF-7	breast:
2	chr3:120137533..120138349-chr3:120225772..120226707,4	MCF-7	breast:
3	chr3:120189185..120191313-chr3:120225259..120226793,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1402371	0.83[AMR][1000 genomes]
rs1837192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3914890	0.83[AMR][1000 genomes]
rs3914891	0.83[AMR][1000 genomes]
rs57513084	1.00[AMR][1000 genomes]
rs6438581	0.80[AFR][1000 genomes]
rs72960888	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72962617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9822782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882314	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120218200-120226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:120223800-120227800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:120224600-120226000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:120224600-120226200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:120224600-120226600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:120224600-120226600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:120224600-120226600	Enhancers	NHDF-Ad	bronchial
8	chr3:120224600-120226600	Enhancers	Osteobl	bone
9	chr3:120224600-120226800	Enhancers	Fetal Heart	heart
10	chr3:120224800-120227000	Enhancers	Colon Smooth Muscle	Colon
11	chr3:120225000-120226000	Enhancers	Right Atrium	heart
12	chr3:120225000-120226000	Enhancers	NHEK	skin
13	chr3:120225000-120226200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr3:120225000-120226200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr3:120225000-120226400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:120225000-120226600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:120225000-120226600	Enhancers	Fetal Kidney	kidney
18	chr3:120225000-120226600	Enhancers	NHLF	lung
19	chr3:120225200-120226000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:120225200-120226000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:120225200-120226000	Enhancers	Aorta	Aorta
22	chr3:120225200-120226000	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:120225200-120226000	Enhancers	Esophagus	oesophagus
24	chr3:120225200-120226000	Enhancers	Left Ventricle	heart
25	chr3:120225200-120226200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:120225200-120226200	Enhancers	Right Ventricle	heart
27	chr3:120225200-120226200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr3:120225200-120226200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr3:120225200-120226200	Enhancers	Stomach Mucosa	stomach
30	chr3:120225200-120226200	Enhancers	NH-A	brain
31	chr3:120225200-120226400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr3:120225200-120226400	Enhancers	Stomach Smooth Muscle	stomach
33	chr3:120225200-120226600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:120225200-120226600	Enhancers	Fetal Muscle Leg	muscle
35	chr3:120225200-120226600	Enhancers	Fetal Stomach	stomach
36	chr3:120225200-120226600	Enhancers	Spleen	Spleen
37	chr3:120225400-120226000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:120225400-120226000	Enhancers	Psoas Muscle	Psoas
39	chr3:120225400-120226000	Enhancers	HepG2	liver
40	chr3:120225400-120226200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr3:120225400-120226200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr3:120225400-120226200	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr3:120225400-120226200	Enhancers	HSMM	muscle
44	chr3:120225400-120226400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:120225400-120226400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:120225400-120226400	Enhancers	Brain Hippocampus Middle	brain
47	chr3:120225400-120226600	Enhancers	Colonic Mucosa	Colon
48	chr3:120225600-120226000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr3:120225600-120226000	Enhancers	Gastric	stomach
50	chr3:120225600-120226200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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