Variant report

Variant	rs146063186
Chromosome Location	chr3:46533383-46533384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46532500..46536089-chr3:46537478..46540838,3	K562	blood:
2	chr3:46530210..46534355-chr3:46598500..46601064,4	K562	blood:
3	chr3:46530210..46534355-chr3:46597750..46601064,4	K562	blood:
4	chr3:46531010..46533398-chr3:46589733..46592357,3	K562	blood:

Variant related genes	Relation type
ENSG00000268324	Chromatin interaction
ENSG00000163825	Chromatin interaction
ENSG00000264306	Chromatin interaction

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	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3431590	chr3:46532894-46533459	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 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	chr3:46529400-46534200	Enhancers	Dnd41	blood
2	chr3:46530200-46533800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:46530400-46533400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:46530400-46533600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:46530400-46533800	Enhancers	HSMM	muscle
6	chr3:46530400-46534200	Enhancers	Osteobl	bone
7	chr3:46530800-46535000	Enhancers	Liver	Liver
8	chr3:46530800-46535200	Enhancers	K562	blood
9	chr3:46530800-46538600	Weak transcription	Pancreas	Pancrea
10	chr3:46531000-46533400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:46531000-46534000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr3:46531000-46534600	Weak transcription	Fetal Intestine Large	intestine
13	chr3:46531000-46538400	Weak transcription	Lung	lung
14	chr3:46531200-46541600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:46531400-46537400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:46531400-46537400	Weak transcription	Spleen	Spleen
17	chr3:46531400-46540200	Weak transcription	Left Ventricle	heart
18	chr3:46531600-46537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:46531600-46537200	Weak transcription	Fetal Thymus	thymus
20	chr3:46531600-46537400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:46531800-46537200	Weak transcription	NH-A	brain
22	chr3:46532200-46533600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:46532200-46534400	Enhancers	Fetal Muscle Leg	muscle
24	chr3:46532400-46533600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:46532400-46538400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:46532400-46538400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:46532600-46533400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:46532600-46533600	Enhancers	HMEC	breast
29	chr3:46532800-46534000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:46532800-46534200	Weak transcription	Right Atrium	heart
31	chr3:46532800-46537200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:46532800-46538000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:46533000-46533400	Weak transcription	NHDF-Ad	bronchial
34	chr3:46533000-46533600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:46533000-46533600	Enhancers	NHEK	skin
36	chr3:46533000-46537200	Weak transcription	NHLF	lung
37	chr3:46533000-46538400	Weak transcription	Right Ventricle	heart
38	chr3:46533000-46544200	Weak transcription	Psoas Muscle	Psoas
39	chr3:46533200-46533400	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:46533200-46533600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:46533200-46537200	Weak transcription	HSMMtube	muscle

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