Variant report

Variant	rs73072468
Chromosome Location	chr12:26431467-26431468
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26427065..26429381-chr12:26431183..26432797,2	MCF-7	breast:
2	chr12:26269560..26272553-chr12:26430642..26432199,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12422927	0.90[EUR][1000 genomes]
rs12426603	0.90[EUR][1000 genomes]
rs1351336	1.00[ASN][1000 genomes]
rs1383115	0.96[EUR][1000 genomes]
rs1480039	0.90[EUR][1000 genomes]
rs16915737	0.90[EUR][1000 genomes]
rs17467330	1.00[ASN][1000 genomes]
rs17467365	1.00[ASN][1000 genomes]
rs17467456	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73072448	0.90[EUR][1000 genomes]
rs73072470	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73072474	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73072489	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955904	0.92[EUR][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	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26421800-26435800	Weak transcription	Gastric	stomach
2	chr12:26424000-26431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:26424600-26431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:26424600-26433400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:26424800-26447000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:26425800-26431600	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:26426000-26432200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:26426600-26431600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:26426600-26431800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:26426800-26432200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:26427800-26432000	Weak transcription	Psoas Muscle	Psoas
12	chr12:26428200-26432400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:26428200-26433400	Weak transcription	Primary B cells from cord blood	blood
14	chr12:26428400-26434000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:26428600-26433800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:26429000-26432000	Weak transcription	Pancreas	Pancrea
17	chr12:26429000-26433800	Weak transcription	Brain Substantia Nigra	brain
18	chr12:26429000-26433800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:26429000-26434000	Weak transcription	Ovary	ovary
20	chr12:26429000-26435400	Weak transcription	GM12878-XiMat	blood
21	chr12:26429000-26440600	Weak transcription	Right Atrium	heart
22	chr12:26429200-26431800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:26429200-26432800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:26429200-26434000	Weak transcription	Brain Anterior Caudate	brain
25	chr12:26429200-26434000	Weak transcription	Lung	lung
26	chr12:26429200-26434200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:26429200-26434200	Weak transcription	Adipose Nuclei	Adipose
28	chr12:26429800-26431600	Enhancers	HSMMtube	muscle
29	chr12:26429800-26431800	Enhancers	HSMM	muscle
30	chr12:26429800-26433000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:26430000-26432000	Weak transcription	K562	blood
32	chr12:26430000-26433800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:26430000-26437400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:26430200-26438400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:26430400-26432000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:26430800-26431600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:26430800-26432000	Weak transcription	Spleen	Spleen
38	chr12:26430800-26432200	Enhancers	HMEC	breast
39	chr12:26431000-26431800	Enhancers	Fetal Thymus	thymus
40	chr12:26431000-26432400	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:26431000-26432400	Enhancers	Fetal Muscle Leg	muscle
42	chr12:26431200-26431600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:26431200-26434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:26431400-26431600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:26431400-26431600	Enhancers	Osteobl	bone
46	chr12:26431400-26432200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:26431400-26433400	Enhancers	Stomach Mucosa	stomach
48	chr12:26431400-26433600	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:26431400-26434000	Weak transcription	NHDF-Ad	bronchial

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