Variant report

Variant	rs73283472
Chromosome Location	chr12:12559975-12559976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12548191..12550928-chr12:12559817..12561583,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58773479	1.00[AFR][1000 genomes]
rs59281713	1.00[AFR][1000 genomes]
rs73279374	0.90[AFR][1000 genomes]
rs73283439	1.00[AFR][1000 genomes]
rs73283452	1.00[AFR][1000 genomes]
rs73285542	1.00[AFR][1000 genomes]
rs73287536	0.90[AFR][1000 genomes]
rs73287550	1.00[AFR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12535400-12561400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:12537200-12576000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:12538600-12561800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12540200-12560600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:12541400-12562800	Weak transcription	Psoas Muscle	Psoas
6	chr12:12552000-12561400	Weak transcription	HSMMtube	muscle
7	chr12:12552000-12569000	Weak transcription	Hela-S3	cervix
8	chr12:12553200-12561400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:12555000-12560600	Enhancers	Fetal Intestine Large	intestine
10	chr12:12555200-12560200	Enhancers	Fetal Intestine Small	intestine
11	chr12:12555200-12560800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:12556000-12560000	Enhancers	Liver	Liver
13	chr12:12556000-12560200	Enhancers	Stomach Mucosa	stomach
14	chr12:12556200-12560200	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:12556200-12560200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:12556600-12561600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:12556800-12560200	Enhancers	HepG2	liver
18	chr12:12556800-12561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:12556800-12561800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:12557000-12561000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:12557000-12561600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:12557200-12561200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:12557200-12572400	Weak transcription	Primary T cells from cord blood	blood
24	chr12:12557400-12561000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:12557400-12561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:12557400-12561400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:12557600-12560600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:12557600-12561000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:12557600-12561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:12557600-12561200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:12557600-12561400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:12557800-12565000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:12558000-12560000	Enhancers	Brain Angular Gyrus	brain
34	chr12:12558000-12586000	Weak transcription	Pancreas	Pancrea
35	chr12:12558400-12560200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:12559000-12561200	Weak transcription	GM12878-XiMat	blood
37	chr12:12559000-12561400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:12559200-12560000	Enhancers	Brain Anterior Caudate	brain
39	chr12:12559200-12560000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:12559200-12560200	Enhancers	Brain Substantia Nigra	brain
41	chr12:12559200-12560400	Enhancers	Brain Hippocampus Middle	brain
42	chr12:12559200-12561000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:12559200-12561000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:12559200-12561000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:12559200-12564800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:12559400-12561000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:12559400-12561400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:12559400-12564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:12559600-12560400	Enhancers	A549	lung
50	chr12:12559800-12560000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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