Variant report

Variant	rs74093907
Chromosome Location	chr12:57230611-57230612
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57159846..57162634-chr12:57228722..57230740,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11830013	1.00[AMR][1000 genomes]
rs11830415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830865	1.00[AMR][1000 genomes]
rs11832786	1.00[AMR][1000 genomes]
rs11835916	1.00[AMR][1000 genomes]
rs58051650	1.00[AMR][1000 genomes]
rs58783710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59501151	1.00[AMR][1000 genomes]
rs60946090	1.00[AMR][1000 genomes]
rs74091604	1.00[AMR][1000 genomes]
rs74091642	1.00[AMR][1000 genomes]
rs74095031	1.00[AMR][1000 genomes]
rs74095032	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 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	chr12:57227600-57234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:57228800-57231800	Enhancers	Spleen	Spleen
3	chr12:57229000-57231000	Enhancers	Adipose Nuclei	Adipose
4	chr12:57229400-57231200	Enhancers	NHDF-Ad	bronchial
5	chr12:57229400-57231800	Enhancers	HSMMtube	muscle
6	chr12:57229400-57232000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:57229400-57233600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:57229600-57231000	Enhancers	Fetal Heart	heart
9	chr12:57229600-57231600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:57229600-57234600	Enhancers	Fetal Lung	lung
11	chr12:57229800-57231400	Enhancers	Hela-S3	cervix
12	chr12:57229800-57231800	Enhancers	Colon Smooth Muscle	Colon
13	chr12:57229800-57231800	Weak transcription	Fetal Kidney	kidney
14	chr12:57229800-57232000	Enhancers	Ovary	ovary
15	chr12:57230000-57231000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:57230000-57231000	Enhancers	A549	lung
17	chr12:57230000-57231000	Bivalent Enhancer	HepG2	liver
18	chr12:57230000-57231400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:57230000-57231400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:57230000-57231400	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:57230200-57230800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:57230200-57230800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:57230200-57230800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:57230200-57231000	Enhancers	Fetal Muscle Leg	muscle
25	chr12:57230200-57231000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:57230200-57231000	Flanking Active TSS	Osteobl	bone
27	chr12:57230200-57231200	Enhancers	Left Ventricle	heart
28	chr12:57230200-57231200	Enhancers	Right Atrium	heart
29	chr12:57230200-57231400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:57230200-57231600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:57230200-57231600	Enhancers	Dnd41	blood
32	chr12:57230200-57231800	Enhancers	Brain Substantia Nigra	brain
33	chr12:57230200-57231800	Enhancers	Placenta	Placenta
34	chr12:57230200-57231800	Enhancers	Lung	lung
35	chr12:57230200-57234600	Enhancers	Liver	Liver
36	chr12:57230400-57230800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:57230400-57230800	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:57230400-57231000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:57230400-57231000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:57230400-57231000	Enhancers	Esophagus	oesophagus
41	chr12:57230400-57231000	Enhancers	Thymus	Thymus
42	chr12:57230400-57231600	Enhancers	Primary B cells from peripheral blood	blood
43	chr12:57230400-57231600	Enhancers	Fetal Thymus	thymus
44	chr12:57230400-57231800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:57230400-57232800	Weak transcription	Brain Anterior Caudate	brain
46	chr12:57230600-57230800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr12:57230600-57230800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:57230600-57230800	Enhancers	NHEK	skin
49	chr12:57230600-57231000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:57230600-57231000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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