Variant report

Variant	rs58592474
Chromosome Location	chr12:64388328-64388329
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64383466..64385069-chr12:64386859..64389683,2	MCF-7	breast:
2	chr12:64386194..64388353-chr12:64398792..64400563,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11175220	1.00[AMR][1000 genomes]
rs12297618	1.00[AMR][1000 genomes]
rs12306001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307017	1.00[AMR][1000 genomes]
rs60392489	1.00[AMR][1000 genomes]
rs61411778	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	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
2	chr12:64377200-64400200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:64377800-64396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:64378000-64395200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:64379800-64388400	Weak transcription	Fetal Brain Female	brain
6	chr12:64379800-64395200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
8	chr12:64382000-64391200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:64382800-64399400	Weak transcription	HUVEC	blood vessel
10	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:64383000-64401200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:64383600-64393000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:64383600-64397600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:64383800-64425400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:64384600-64404000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:64384800-64394800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:64385000-64390800	Weak transcription	HSMM	muscle
18	chr12:64385000-64401000	Weak transcription	Ovary	ovary
19	chr12:64385000-64408800	Weak transcription	Hela-S3	cervix
20	chr12:64385000-64425600	Weak transcription	Left Ventricle	heart
21	chr12:64385200-64399600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:64385600-64389000	Weak transcription	Osteobl	bone
23	chr12:64385800-64399600	Weak transcription	NH-A	brain
24	chr12:64386000-64388400	Weak transcription	Fetal Brain Male	brain
25	chr12:64386000-64388400	Weak transcription	Fetal Kidney	kidney
26	chr12:64386400-64388400	Weak transcription	Pancreas	Pancrea
27	chr12:64386400-64395200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:64386400-64395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:64386600-64389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:64386600-64400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:64386800-64388600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:64386800-64388600	Weak transcription	Brain Anterior Caudate	brain
33	chr12:64386800-64388600	Weak transcription	NHEK	skin
34	chr12:64386800-64389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:64386800-64392000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:64386800-64392200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:64386800-64395200	Weak transcription	Right Atrium	heart
38	chr12:64386800-64397800	Weak transcription	Brain Angular Gyrus	brain
39	chr12:64386800-64403600	Weak transcription	Brain Substantia Nigra	brain
40	chr12:64386800-64404200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:64387000-64389200	Weak transcription	HMEC	breast
42	chr12:64387000-64390200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:64387000-64391600	Weak transcription	HSMMtube	muscle
44	chr12:64387200-64389200	Weak transcription	NHLF	lung
45	chr12:64387200-64389400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr12:64387400-64389200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:64387400-64396000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:64387800-64388600	Weak transcription	Fetal Heart	heart
49	chr12:64388000-64389600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:64388200-64388400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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