Variant report

Variant	rs78039352
Chromosome Location	chr12:39809766-39809767
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	chr12:39793372..39796238-chr12:39806830..39809770,2	K562	blood:
2	chr12:39807954..39810429-chr12:39835327..39837986,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139116	Chromatin interaction
ENSG00000252974	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3361042	chr12:39809685-39811733	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39785000-39829200	Weak transcription	K562	blood
2	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
3	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
4	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:39797600-39812000	Weak transcription	HMEC	breast
6	chr12:39800800-39812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:39800800-39814800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:39801000-39815800	Weak transcription	Psoas Muscle	Psoas
9	chr12:39801600-39811000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:39802000-39811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:39802400-39816000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:39804000-39811800	Weak transcription	Adipose Nuclei	Adipose
13	chr12:39805200-39811800	Weak transcription	HepG2	liver
14	chr12:39806400-39813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:39806600-39811800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix
17	chr12:39807200-39811400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:39807800-39810200	Enhancers	Fetal Heart	heart
19	chr12:39808400-39809800	Enhancers	GM12878-XiMat	blood
20	chr12:39808600-39811800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:39808600-39812400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:39808600-39813000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:39808600-39814000	Weak transcription	Brain Angular Gyrus	brain
24	chr12:39808600-39814800	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:39808600-39821600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:39808600-39830800	Weak transcription	Fetal Brain Female	brain
27	chr12:39809400-39809800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr12:39809400-39809800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:39809400-39810000	Enhancers	A549	lung
30	chr12:39809400-39815200	Weak transcription	Left Ventricle	heart
31	chr12:39809600-39809800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:39809600-39809800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:39809600-39809800	Enhancers	Liver	Liver
34	chr12:39809600-39809800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:39809600-39809800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:39809600-39810000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:39809600-39810000	Enhancers	Brain Anterior Caudate	brain
38	chr12:39809600-39810000	Enhancers	Colon Smooth Muscle	Colon
39	chr12:39809600-39810200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:39809600-39813600	Weak transcription	Placenta	Placenta
41	chr12:39809600-39813800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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