Variant report

Variant	rs1713961
Chromosome Location	chr4:57922268-57922269
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:12)

rs_ID	r²[population]
rs11726321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13107451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1611781	0.84[EUR][1000 genomes]
rs1713962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1713967	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1713968	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1718834	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1718873	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1718874	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1718883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611987	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670536	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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:62 , 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	chr4:57913000-57922600	Weak transcription	Ovary	ovary
4	chr4:57915200-57922400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:57915400-57923600	Weak transcription	HSMM	muscle
6	chr4:57915600-57922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:57915600-57923000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:57915600-57924200	Enhancers	Left Ventricle	heart
9	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
11	chr4:57917800-57922600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:57917800-57926000	Weak transcription	Fetal Kidney	kidney
13	chr4:57918000-57923400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
15	chr4:57918600-57922400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:57918600-57923600	Strong transcription	HSMMtube	muscle
17	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:57920000-57922800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:57920400-57922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:57920400-57925600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:57920400-57926200	Weak transcription	A549	lung
23	chr4:57920400-57930200	Weak transcription	Lung	lung
24	chr4:57920600-57923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:57920600-57924400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr4:57920600-57927600	Weak transcription	HMEC	breast
27	chr4:57921000-57922400	Strong transcription	NH-A	brain
28	chr4:57921000-57924200	Strong transcription	Osteobl	bone
29	chr4:57921000-57926800	Weak transcription	Small Intestine	intestine
30	chr4:57921000-57931000	Weak transcription	NHEK	skin
31	chr4:57921200-57922400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:57921200-57922600	Weak transcription	Psoas Muscle	Psoas
33	chr4:57921200-57923800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:57921200-57924800	Enhancers	Right Ventricle	heart
35	chr4:57921400-57922600	Weak transcription	Aorta	Aorta
36	chr4:57921400-57924200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:57921600-57923000	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr4:57921600-57923800	Weak transcription	Spleen	Spleen
39	chr4:57921800-57923000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:57921800-57923000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:57921800-57924000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:57921800-57928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:57922000-57922400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr4:57922000-57922400	Active TSS	Colon Smooth Muscle	Colon
45	chr4:57922000-57922400	Genic enhancers	Fetal Stomach	stomach
46	chr4:57922000-57922600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:57922000-57922600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr4:57922000-57922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:57922000-57922800	Enhancers	Brain Anterior Caudate	brain
50	chr4:57922000-57923000	Enhancers	NHLF	lung

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