Variant report

Variant	rs1402150
Chromosome Location	chr3:46531727-46531728
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46530210..46534355-chr3:46598500..46601064,4	K562	blood:
2	chr3:46530210..46534355-chr3:46597750..46601064,4	K562	blood:
3	chr3:46529825..46532011-chr3:46599266..46600570,56	K562	blood:
4	chr3:46531010..46533398-chr3:46589733..46592357,3	K562	blood:
5	chr3:46530992..46532877-chr3:46591442..46593990,2	K562	blood:
6	chr3:46530490..46532908-chr3:46536819..46540385,3	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1474195	1.00[EUR][1000 genomes]
rs4682818	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57761280	0.90[AMR][1000 genomes]
rs61243940	0.90[AMR][1000 genomes]
rs6768139	1.00[EUR][1000 genomes]
rs6799088	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46529400-46534200	Enhancers	Dnd41	blood
2	chr3:46530000-46531800	Enhancers	NH-A	brain
3	chr3:46530200-46531800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr3:46530200-46533800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:46530400-46531800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:46530400-46533000	Enhancers	NHDF-Ad	bronchial
7	chr3:46530400-46533400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:46530400-46533600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:46530400-46533800	Enhancers	HSMM	muscle
10	chr3:46530400-46534200	Enhancers	Osteobl	bone
11	chr3:46530600-46532000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:46530600-46532800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:46530600-46533200	Enhancers	HSMMtube	muscle
14	chr3:46530800-46531800	Enhancers	Primary T cells from cord blood	blood
15	chr3:46530800-46531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:46530800-46532400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:46530800-46532400	Enhancers	Thymus	Thymus
18	chr3:46530800-46532600	Weak transcription	Right Atrium	heart
19	chr3:46530800-46533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:46530800-46535000	Enhancers	Liver	Liver
21	chr3:46530800-46535200	Enhancers	K562	blood
22	chr3:46530800-46538600	Weak transcription	Pancreas	Pancrea
23	chr3:46531000-46532200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:46531000-46532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:46531000-46532600	Weak transcription	Stomach Mucosa	stomach
26	chr3:46531000-46532800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:46531000-46532800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:46531000-46533400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr3:46531000-46534000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:46531000-46534600	Weak transcription	Fetal Intestine Large	intestine
31	chr3:46531000-46538400	Weak transcription	Lung	lung
32	chr3:46531200-46531800	Enhancers	Fetal Muscle Leg	muscle
33	chr3:46531200-46532400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:46531200-46532600	Weak transcription	Psoas Muscle	Psoas
35	chr3:46531200-46532600	Weak transcription	Right Ventricle	heart
36	chr3:46531200-46533000	Weak transcription	NHEK	skin
37	chr3:46531200-46541600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:46531400-46532600	Weak transcription	Gastric	stomach
39	chr3:46531400-46532800	Weak transcription	NHLF	lung
40	chr3:46531400-46533000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:46531400-46537400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:46531400-46537400	Weak transcription	Spleen	Spleen
43	chr3:46531400-46540200	Weak transcription	Left Ventricle	heart
44	chr3:46531600-46532200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:46531600-46532600	Weak transcription	HMEC	breast
46	chr3:46531600-46533200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:46531600-46537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:46531600-46537200	Weak transcription	Fetal Thymus	thymus
49	chr3:46531600-46537400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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