Variant report

Variant	rs14828
Chromosome Location	chr3:48894445-48894446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13318132	1.00[EUR][1000 genomes]
rs28523319	1.00[EUR][1000 genomes]
rs28615670	1.00[EUR][1000 genomes]
rs4527417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58708931	1.00[EUR][1000 genomes]
rs58835493	1.00[EUR][1000 genomes]
rs58914641	1.00[EUR][1000 genomes]
rs58998762	1.00[EUR][1000 genomes]
rs59352296	1.00[EUR][1000 genomes]
rs60338814	1.00[EUR][1000 genomes]
rs60352528	1.00[EUR][1000 genomes]
rs61008775	1.00[EUR][1000 genomes]
rs61744082	1.00[EUR][1000 genomes]
rs6791777	1.00[EUR][1000 genomes]
rs72930094	1.00[EUR][1000 genomes]
rs72931155	1.00[EUR][1000 genomes]
rs72931157	1.00[EUR][1000 genomes]
rs72931171	1.00[EUR][1000 genomes]
rs72934791	1.00[EUR][1000 genomes]
rs72936804	1.00[EUR][1000 genomes]
rs72936810	1.00[EUR][1000 genomes]
rs72936890	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73830478	1.00[EUR][1000 genomes]
rs73833525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9811460	1.00[EUR][1000 genomes]
rs9814413	1.00[EUR][1000 genomes]
rs9820609	1.00[EUR][1000 genomes]
rs9833422	1.00[EUR][1000 genomes]
rs9860187	1.00[EUR][1000 genomes]
rs9875203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9876812	1.00[EUR][1000 genomes]
rs9877045	1.00[EUR][1000 genomes]
rs9882714	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48885600-48915000	Weak transcription	Small Intestine	intestine
2	chr3:48885800-48896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:48885800-48896400	Weak transcription	Ovary	ovary
4	chr3:48885800-48899600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:48885800-48900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:48885800-48906600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:48885800-48913600	Weak transcription	Fetal Lung	lung
8	chr3:48886000-48895600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:48886000-48895600	Weak transcription	Placenta	Placenta
10	chr3:48886000-48895800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:48886000-48896000	Weak transcription	Stomach Mucosa	stomach
12	chr3:48886000-48897800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:48886000-48899000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:48886000-48899600	Weak transcription	NHEK	skin
15	chr3:48886000-48899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:48886200-48894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:48886200-48894600	Weak transcription	Primary B cells from cord blood	blood
18	chr3:48886200-48894600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:48886200-48895600	Weak transcription	Esophagus	oesophagus
20	chr3:48886200-48895800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:48886200-48895800	Weak transcription	HSMMtube	muscle
22	chr3:48886200-48896000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:48886200-48900000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:48886200-48900400	Weak transcription	NHLF	lung
25	chr3:48886200-48900800	Weak transcription	NHDF-Ad	bronchial
26	chr3:48886400-48894800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:48886400-48895800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:48886400-48896000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr3:48886400-48896400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:48886400-48897800	Weak transcription	Osteobl	bone
31	chr3:48886400-48899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:48886600-48896200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:48886600-48896400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:48886600-48901800	Weak transcription	Fetal Heart	heart
35	chr3:48889200-48902000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:48889400-48901200	Weak transcription	Fetal Brain Male	brain
37	chr3:48889600-48935400	Weak transcription	Brain Germinal Matrix	brain
38	chr3:48889800-48916800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:48890200-48896600	Weak transcription	GM12878-XiMat	blood
40	chr3:48891600-48904600	Weak transcription	HSMM	muscle
41	chr3:48892600-48896600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr3:48892600-48897000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:48892600-48897200	Strong transcription	Adipose Nuclei	Adipose
44	chr3:48892600-48897600	Strong transcription	Liver	Liver
45	chr3:48893000-48894600	Weak transcription	Dnd41	blood
46	chr3:48893200-48894800	Genic enhancers	Fetal Muscle Leg	muscle
47	chr3:48893200-48896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:48893200-48896400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:48893200-48896600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr3:48893200-48897000	Strong transcription	Right Ventricle	heart

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