Variant report

Variant	rs56280979
Chromosome Location	chr4:148919844-148919845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10519927	0.87[AFR][1000 genomes]
rs10519934	0.97[AFR][1000 genomes]
rs17024236	0.87[AFR][1000 genomes]
rs41320648	0.85[AFR][1000 genomes]
rs4393981	0.90[AFR][1000 genomes]
rs55881523	0.90[AFR][1000 genomes]
rs56320153	0.91[AFR][1000 genomes]
rs58710671	0.92[AFR][1000 genomes]
rs60361452	0.86[AFR][1000 genomes]
rs73853992	0.84[AFR][1000 genomes]
rs73853995	0.88[AFR][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	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
2	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:47 , 50 per page) page: 1

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	chr4:148889200-148936200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:148891600-148920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:148891600-148928000	Weak transcription	A549	lung
6	chr4:148896600-148928400	Weak transcription	Spleen	Spleen
7	chr4:148898200-148920600	Weak transcription	NHEK	skin
8	chr4:148898200-148925400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:148906000-148925200	Weak transcription	Adipose Nuclei	Adipose
10	chr4:148906400-148928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:148906600-148920600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:148906600-148920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:148906600-148920800	Weak transcription	Fetal Intestine Small	intestine
14	chr4:148907200-148928000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:148907400-148928400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:148907800-148920600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:148910200-148928400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:148911600-148936200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:148911800-148925200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:148913000-148920000	Weak transcription	GM12878-XiMat	blood
21	chr4:148913200-148929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:148913600-148920600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:148913600-148933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:148915200-148928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:148915400-148920000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:148915600-148920200	Weak transcription	Aorta	Aorta
27	chr4:148915600-148920200	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:148916200-148920600	Weak transcription	Fetal Stomach	stomach
29	chr4:148916400-148928200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:148916600-148922200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:148916600-148925400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:148916600-148925600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:148916600-148928800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:148916800-148927800	Weak transcription	HUVEC	blood vessel
35	chr4:148917800-148925600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:148917800-148927000	Weak transcription	HSMMtube	muscle
37	chr4:148917800-148927200	Weak transcription	Lung	lung
38	chr4:148918000-148928000	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:148918000-148968000	Weak transcription	Gastric	stomach
40	chr4:148918200-148920600	Weak transcription	Esophagus	oesophagus
41	chr4:148918200-148924400	Weak transcription	Psoas Muscle	Psoas
42	chr4:148918200-148925000	Weak transcription	Left Ventricle	heart
43	chr4:148918200-148925000	Weak transcription	Right Ventricle	heart
44	chr4:148918200-148929200	Weak transcription	Ovary	ovary
45	chr4:148918200-148937000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:148918400-148925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:148918800-148928400	Weak transcription	HSMM	muscle

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