Variant report

Variant	rs60413428
Chromosome Location	chr3:112393383-112393384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112382809..112385022-chr3:112393249..112395898,2	MCF-7	breast:
2	chr3:112358207..112360933-chr3:112392611..112397881,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58079096	0.98[AFR][1000 genomes]
rs58671322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61467102	0.89[AFR][1000 genomes]
rs73853947	0.98[AFR][1000 genomes]
rs73853955	1.00[AFR][1000 genomes]
rs73853956	0.98[AFR][1000 genomes]
rs73853957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112388000-112395800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:112389000-112393400	Enhancers	Primary T cells from cord blood	blood
3	chr3:112389000-112394000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr3:112389000-112394000	Enhancers	HSMM	muscle
5	chr3:112389200-112396800	Enhancers	Osteobl	bone
6	chr3:112389600-112395200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:112389600-112395800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:112389600-112396200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:112389800-112394200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:112389800-112395200	Enhancers	NHDF-Ad	bronchial
11	chr3:112390200-112393400	Enhancers	NH-A	brain
12	chr3:112390400-112393600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:112390400-112395800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:112391000-112395400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:112391200-112395200	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:112391200-112395200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:112391200-112395800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:112391400-112395200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:112391400-112407800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:112391600-112394200	Weak transcription	NHEK	skin
21	chr3:112391600-112394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:112391600-112395400	Enhancers	A549	lung
23	chr3:112391600-112395600	Weak transcription	Fetal Lung	lung
24	chr3:112391800-112393400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:112391800-112393600	Enhancers	HSMMtube	muscle
26	chr3:112391800-112394000	Enhancers	NHLF	lung
27	chr3:112391800-112395000	Weak transcription	Hela-S3	cervix
28	chr3:112391800-112395200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:112391800-112395400	Weak transcription	Thymus	Thymus
30	chr3:112391800-112395800	Weak transcription	Spleen	Spleen
31	chr3:112392000-112394200	Weak transcription	K562	blood
32	chr3:112392000-112395200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:112392000-112395200	Weak transcription	Placenta	Placenta
34	chr3:112392000-112395400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:112392000-112397200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:112392200-112395000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:112392200-112395000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:112392200-112395000	Weak transcription	HMEC	breast
39	chr3:112392200-112395600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:112392200-112395600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:112392200-112397400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr3:112392400-112395200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:112392400-112395800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:112392600-112393400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:112392600-112394600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:112392600-112394600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:112392800-112395000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:112392800-112395200	Weak transcription	Primary B cells from cord blood	blood
49	chr3:112392800-112395200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:112393000-112393800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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