Variant report

Variant	rs1718874
Chromosome Location	chr4:57921133-57921134
allele	C/T
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:12)

rs_ID	r²[population]
rs11726321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1611781	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1713961	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1713962	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713968	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1718834	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718883	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4611987	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7670536	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:51 , 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	chr4:57904800-57922200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:57910400-57921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:57913000-57921200	Weak transcription	Fetal Stomach	stomach
6	chr4:57913000-57922000	Weak transcription	NHLF	lung
7	chr4:57913000-57922600	Weak transcription	Ovary	ovary
8	chr4:57915000-57921200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:57915200-57922400	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:57915400-57923600	Weak transcription	HSMM	muscle
11	chr4:57915600-57922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:57915600-57923000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:57915600-57924200	Enhancers	Left Ventricle	heart
14	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:57916000-57922000	Weak transcription	Brain Anterior Caudate	brain
16	chr4:57917600-57922200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
18	chr4:57917800-57921600	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:57917800-57922600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:57917800-57926000	Weak transcription	Fetal Kidney	kidney
21	chr4:57918000-57921400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:57918000-57922000	Weak transcription	Fetal Heart	heart
23	chr4:57918000-57923400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
25	chr4:57918600-57921200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:57918600-57922400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:57918600-57923600	Strong transcription	HSMMtube	muscle
28	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:57919000-57921200	Weak transcription	Right Atrium	heart
31	chr4:57919400-57921600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:57920000-57922800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:57920200-57921200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:57920200-57921400	Enhancers	Aorta	Aorta
35	chr4:57920400-57921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:57920400-57921200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:57920400-57921200	Weak transcription	Right Ventricle	heart
38	chr4:57920400-57922000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:57920400-57922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:57920400-57925600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:57920400-57926200	Weak transcription	A549	lung
42	chr4:57920400-57930200	Weak transcription	Lung	lung
43	chr4:57920600-57923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:57920600-57924400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr4:57920600-57927600	Weak transcription	HMEC	breast
46	chr4:57921000-57921200	Enhancers	Psoas Muscle	Psoas
47	chr4:57921000-57921600	Strong transcription	Spleen	Spleen
48	chr4:57921000-57922400	Strong transcription	NH-A	brain
49	chr4:57921000-57924200	Strong transcription	Osteobl	bone
50	chr4:57921000-57926800	Weak transcription	Small Intestine	intestine

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