Variant report

Variant	rs55881523
Chromosome Location	chr4:148906329-148906330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10519927	0.96[AFR][1000 genomes]
rs10519934	0.93[AFR][1000 genomes]
rs17024193	0.83[AFR][1000 genomes]
rs17024201	0.89[AFR][1000 genomes]
rs17024236	0.96[AFR][1000 genomes]
rs41320648	0.81[AFR][1000 genomes]
rs4393981	1.00[AFR][1000 genomes]
rs56280979	0.90[AFR][1000 genomes]
rs56320153	0.99[AFR][1000 genomes]
rs58710671	0.88[AFR][1000 genomes]
rs60201372	0.82[AFR][1000 genomes]
rs60361452	0.95[AFR][1000 genomes]
rs73853992	0.93[AFR][1000 genomes]
rs73853995	0.98[AFR][1000 genomes]

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	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
2	chr4:148885600-148939000	Weak transcription	Pancreas	Pancrea
3	chr4:148885800-148907000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:148885800-148912800	Weak transcription	Fetal Lung	lung
5	chr4:148886000-148917600	Weak transcription	Esophagus	oesophagus
6	chr4:148889200-148936200	Weak transcription	Fetal Intestine Large	intestine
7	chr4:148891600-148912800	Weak transcription	Fetal Kidney	kidney
8	chr4:148891600-148920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:148891600-148928000	Weak transcription	A549	lung
10	chr4:148896600-148928400	Weak transcription	Spleen	Spleen
11	chr4:148897200-148917600	Weak transcription	Lung	lung
12	chr4:148898200-148920600	Weak transcription	NHEK	skin
13	chr4:148898200-148925400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:148900800-148911400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:148902000-148908400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:148903000-148911200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:148903200-148914800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:148903400-148907600	Weak transcription	HSMM	muscle
19	chr4:148903400-148914600	Weak transcription	HSMMtube	muscle
20	chr4:148903400-148914800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:148903400-148915000	Weak transcription	Osteobl	bone
22	chr4:148904800-148907000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:148905000-148906400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:148905000-148906600	Enhancers	Colon Smooth Muscle	Colon
25	chr4:148905000-148907000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:148905000-148907000	Enhancers	Brain Hippocampus Middle	brain
27	chr4:148905200-148906600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:148905200-148906600	ZNF genes & repeats	Fetal Stomach	stomach
29	chr4:148905200-148907400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:148905400-148906400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:148905400-148906400	Enhancers	Ovary	ovary
32	chr4:148905400-148906600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:148905400-148906800	Enhancers	Aorta	Aorta
34	chr4:148905400-148906800	Enhancers	Right Atrium	heart
35	chr4:148905400-148906800	Strong transcription	NHLF	lung
36	chr4:148905400-148907000	Enhancers	Brain Cingulate Gyrus	brain
37	chr4:148905400-148907000	Enhancers	Left Ventricle	heart
38	chr4:148905400-148907000	Enhancers	Right Ventricle	heart
39	chr4:148905400-148907200	Enhancers	Brain Angular Gyrus	brain
40	chr4:148905400-148907200	Genic enhancers	Fetal Muscle Leg	muscle
41	chr4:148905400-148907200	Enhancers	Psoas Muscle	Psoas
42	chr4:148905400-148907400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:148905600-148906600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:148905600-148906600	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr4:148905600-148908600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:148905800-148906600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:148905800-148907400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:148905800-148907600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:148905800-148908600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:148905800-148908800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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