Variant report

Variant	rs28401433
Chromosome Location	chr3:45784754-45784755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs34458611	0.87[AMR][1000 genomes]
rs58213273	0.85[AMR][1000 genomes]
rs61603235	1.00[AMR][1000 genomes]
rs6778381	0.85[AMR][1000 genomes]
rs6780893	0.85[AMR][1000 genomes]
rs6786791	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6794096	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72882544	0.85[AMR][1000 genomes]
rs73830458	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830459	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9811206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9823820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9827350	0.85[AMR][1000 genomes]
rs9850601	0.85[AMR][1000 genomes]
rs9861547	0.87[AMR][1000 genomes]
rs9873753	0.87[AMR][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	esv34130	chr3:45609075-45796657	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv876735	chr3:45764246-45832052	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45741600-45790000	Strong transcription	Fetal Thymus	thymus
2	chr3:45754200-45790000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:45763400-45790000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:45768400-45802800	Weak transcription	Right Atrium	heart
5	chr3:45768800-45790000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:45768800-45790000	Strong transcription	Dnd41	blood
7	chr3:45769200-45789600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:45769600-45789600	Strong transcription	HSMM	muscle
9	chr3:45769800-45789600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:45769800-45789800	Strong transcription	Fetal Brain Female	brain
11	chr3:45769800-45790000	Strong transcription	Placenta	Placenta
12	chr3:45769800-45790600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:45770200-45786200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr3:45770200-45788600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:45770200-45789800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:45771000-45789600	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:45771600-45789800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr3:45771600-45790000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr3:45771800-45785400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:45771800-45789000	Strong transcription	Adipose Nuclei	Adipose
21	chr3:45771800-45789800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr3:45772000-45786200	Strong transcription	NHDF-Ad	bronchial
23	chr3:45772000-45787400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:45772000-45789800	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr3:45772400-45789800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:45772400-45790000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:45773000-45789000	Strong transcription	GM12878-XiMat	blood
28	chr3:45773200-45786200	Strong transcription	Brain Substantia Nigra	brain
29	chr3:45774200-45789800	Strong transcription	Brain Cingulate Gyrus	brain
30	chr3:45774400-45789400	Strong transcription	Fetal Muscle Leg	muscle
31	chr3:45774400-45789600	Strong transcription	Thymus	Thymus
32	chr3:45774400-45789800	Strong transcription	Lung	lung
33	chr3:45775600-45791200	Strong transcription	Fetal Stomach	stomach
34	chr3:45776400-45787600	Strong transcription	NH-A	brain
35	chr3:45776400-45788600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:45776400-45789600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:45776800-45786600	Strong transcription	Osteobl	bone
38	chr3:45776800-45789800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:45777000-45790000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:45777200-45789800	Strong transcription	Aorta	Aorta
41	chr3:45777400-45785000	Strong transcription	Rectal Smooth Muscle	rectum
42	chr3:45777400-45786400	Strong transcription	Right Ventricle	heart
43	chr3:45777400-45787200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr3:45777600-45786200	Strong transcription	HSMMtube	muscle
45	chr3:45778000-45789400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:45778000-45789800	Strong transcription	Ovary	ovary
47	chr3:45778400-45786200	Strong transcription	Fetal Lung	lung
48	chr3:45778800-45789600	Strong transcription	Left Ventricle	heart
49	chr3:45779200-45786000	Strong transcription	NHEK	skin
50	chr3:45779800-45785000	Weak transcription	Stomach Mucosa	stomach

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