Variant report

Variant	rs117054706
Chromosome Location	chr12:76248644-76248645
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76244731..76246265-chr12:76247627..76249757,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv519546	chr12:76247543-76255406	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:76244000-76249000	Enhancers	HMEC	breast
7	chr12:76244000-76249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:76244600-76249200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:76245000-76248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:76245000-76252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:76245200-76256400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:76246000-76255400	Weak transcription	A549	lung
13	chr12:76246400-76249800	Enhancers	NHEK	skin
14	chr12:76247000-76248800	Enhancers	Fetal Kidney	kidney
15	chr12:76247000-76248800	Enhancers	HSMMtube	muscle
16	chr12:76247200-76249200	Enhancers	Fetal Muscle Leg	muscle
17	chr12:76247800-76249800	Weak transcription	Ovary	ovary
18	chr12:76248200-76249000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:76248200-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:76248400-76248800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:76248400-76248800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:76248400-76248800	Enhancers	HSMM	muscle
23	chr12:76248400-76249000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:76248400-76249400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:76248400-76249400	Enhancers	Osteobl	bone
26	chr12:76248400-76250600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:76248400-76250600	Enhancers	NHDF-Ad	bronchial
28	chr12:76248600-76248800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:76248600-76248800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr12:76248600-76248800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:76248600-76249200	Enhancers	NHLF	lung
32	chr12:76248600-76249400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:76248600-76249600	Weak transcription	Fetal Lung	lung
34	chr12:76248600-76250600	Enhancers	Adipose Nuclei	Adipose

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