Variant report

Variant	rs118182039
Chromosome Location	chr12:46009466-46009467
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	chr12:45989699..45991915-chr12:46007034..46009721,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2751099	chr12:45960118-46043633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv983462	chr12:46008670-46015543	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46005400-46011800	Weak transcription	Right Atrium	heart
2	chr12:46007200-46009800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:46007600-46009600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:46007600-46010600	Enhancers	Hela-S3	cervix
5	chr12:46008200-46009600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:46008200-46009800	Enhancers	Brain Anterior Caudate	brain
7	chr12:46008600-46010000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:46008600-46010000	Enhancers	HUVEC	blood vessel
9	chr12:46008800-46009800	Enhancers	A549	lung
10	chr12:46008800-46010200	Enhancers	NHLF	lung
11	chr12:46009000-46009600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:46009000-46009800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:46009000-46009800	Enhancers	Brain Hippocampus Middle	brain
14	chr12:46009000-46009800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:46009000-46009800	Enhancers	HSMM	muscle
16	chr12:46009000-46009800	Enhancers	NH-A	brain
17	chr12:46009000-46009800	Enhancers	Osteobl	bone
18	chr12:46009000-46010000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:46009000-46010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:46009000-46010000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:46009000-46010000	Enhancers	Fetal Kidney	kidney
22	chr12:46009000-46010000	Enhancers	HSMMtube	muscle
23	chr12:46009200-46009600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:46009200-46009600	Enhancers	Brain Angular Gyrus	brain
25	chr12:46009200-46009600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:46009200-46009800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:46009200-46009800	Enhancers	Psoas Muscle	Psoas
28	chr12:46009200-46010000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:46009200-46010000	Enhancers	HMEC	breast
30	chr12:46009200-46010000	Enhancers	NHDF-Ad	bronchial
31	chr12:46009400-46009800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:46009400-46009800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:46009400-46009800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr12:46009400-46009800	Enhancers	NHEK	skin
35	chr12:46009400-46010000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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