Variant report

Variant	rs543662260
Chromosome Location	chr2:111993652-111993653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111992422..111994041-chr2:111997666..112000118,2	MCF-7	breast:
2	chr2:111985051..111989984-chr2:111990013..111994177,5	K562	blood:
3	chr2:111943401..111945501-chr2:111991303..111993728,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv874843	chr2:111966947-112023328	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv821628	chr2:111993557-112248408	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111954800-112006800	Weak transcription	HUVEC	blood vessel
2	chr2:111975200-112008200	Weak transcription	Pancreas	Pancrea
3	chr2:111977600-112011400	Weak transcription	A549	lung
4	chr2:111984000-111994000	Weak transcription	K562	blood
5	chr2:111985800-112009600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:111986000-111995600	Weak transcription	HepG2	liver
7	chr2:111986200-111995200	Weak transcription	NH-A	brain
8	chr2:111986200-111995400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:111986200-112004400	Weak transcription	Osteobl	bone
10	chr2:111986400-111995400	Weak transcription	NHLF	lung
11	chr2:111986400-111995800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:111986400-112004000	Weak transcription	NHDF-Ad	bronchial
13	chr2:111989200-111993800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:111990000-111995600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:111990000-112004000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:111990200-111995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:111991400-111993800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:111991800-111994000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:111991800-111995400	Weak transcription	Dnd41	blood
20	chr2:111992400-111996600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:111992600-111994600	Enhancers	HMEC	breast
22	chr2:111992800-111993800	Enhancers	Brain Germinal Matrix	brain
23	chr2:111992800-111994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:111992800-111996800	Enhancers	Esophagus	oesophagus
25	chr2:111993000-111993800	Enhancers	Psoas Muscle	Psoas
26	chr2:111993000-111994000	Enhancers	Adipose Nuclei	Adipose
27	chr2:111993000-111994000	Enhancers	Left Ventricle	heart
28	chr2:111993000-111994000	Enhancers	Right Atrium	heart
29	chr2:111993000-111994400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:111993000-111994400	Enhancers	Right Ventricle	heart
31	chr2:111993000-111994600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:111993200-111994000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:111993200-111994000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:111993200-111998000	Strong transcription	HSMM	muscle
35	chr2:111993200-112008200	Weak transcription	Aorta	Aorta
36	chr2:111993200-112008200	Weak transcription	Lung	lung
37	chr2:111993400-111993800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:111993400-111994000	Enhancers	Fetal Heart	heart
39	chr2:111993400-111994000	Flanking Active TSS	NHEK	skin
40	chr2:111993400-111994200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:111993400-111994400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:111993400-111995800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:111993600-111994000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:111993600-111994400	Genic enhancers	HSMMtube	muscle
45	chr2:111993600-112004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:111993600-112004000	Weak transcription	Fetal Muscle Leg	muscle

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