Variant report

Variant	rs7699276
Chromosome Location	chr4:57923557-57923558
allele	A/C/G
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:18)

rs_ID	r²[population]
rs11941013	0.92[EUR][1000 genomes]
rs1277296	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713964	0.97[EUR][1000 genomes]
rs1713965	0.95[EUR][1000 genomes]
rs17182939	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35680048	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4596307	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59666483	0.92[EUR][1000 genomes]
rs6554404	0.92[EUR][1000 genomes]
rs67000357	0.92[EUR][1000 genomes]
rs6837593	0.92[EUR][1000 genomes]
rs73242633	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242634	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654665	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669759	0.92[EUR][1000 genomes]
rs7672518	0.92[EUR][1000 genomes]
rs7688422	0.92[EUR][1000 genomes]
rs7688831	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:57915400-57923600	Weak transcription	HSMM	muscle
4	chr4:57915600-57924200	Enhancers	Left Ventricle	heart
5	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
7	chr4:57917800-57926000	Weak transcription	Fetal Kidney	kidney
8	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
9	chr4:57918600-57923600	Strong transcription	HSMMtube	muscle
10	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:57920400-57925600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:57920400-57926200	Weak transcription	A549	lung
14	chr4:57920400-57930200	Weak transcription	Lung	lung
15	chr4:57920600-57923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:57920600-57924400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr4:57920600-57927600	Weak transcription	HMEC	breast
18	chr4:57921000-57924200	Strong transcription	Osteobl	bone
19	chr4:57921000-57926800	Weak transcription	Small Intestine	intestine
20	chr4:57921000-57931000	Weak transcription	NHEK	skin
21	chr4:57921200-57923800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:57921200-57924800	Enhancers	Right Ventricle	heart
23	chr4:57921400-57924200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:57921600-57923800	Weak transcription	Spleen	Spleen
25	chr4:57921800-57924000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:57921800-57928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:57922000-57923600	Enhancers	Fetal Lung	lung
28	chr4:57922000-57923800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:57922000-57926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:57922400-57923600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:57922400-57924000	Enhancers	Fetal Stomach	stomach
32	chr4:57922600-57923800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr4:57922600-57924200	Enhancers	Colon Smooth Muscle	Colon
34	chr4:57922600-57924200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr4:57922600-57924200	Enhancers	Ovary	ovary
36	chr4:57922600-57924200	Enhancers	Right Atrium	heart
37	chr4:57922800-57923800	Weak transcription	Brain Anterior Caudate	brain
38	chr4:57922800-57924000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:57922800-57924200	Enhancers	Fetal Heart	heart
40	chr4:57922800-57931200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:57923000-57923800	Weak transcription	Brain Substantia Nigra	brain
42	chr4:57923000-57924200	Enhancers	Rectal Smooth Muscle	rectum
43	chr4:57923000-57924200	Enhancers	Stomach Smooth Muscle	stomach
44	chr4:57923000-57926200	Weak transcription	NHLF	lung
45	chr4:57923000-57928600	Weak transcription	Psoas Muscle	Psoas
46	chr4:57923000-57929200	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:57923000-57930200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:57923000-57931000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:57923000-57931800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:57923000-57932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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