Variant report

Variant	rs62318124
Chromosome Location	chr4:107278039-107278040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:107275880..107279456-chr4:107281523..107285039,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs57000190	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62318075	0.86[EUR][1000 genomes]
rs62318079	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62318080	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62318082	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62318085	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62318087	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318088	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318089	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62318090	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62318091	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62318092	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62318093	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62318116	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62318118	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62318123	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62318125	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62321372	0.82[EUR][1000 genomes]
rs62321373	0.82[EUR][1000 genomes]
rs62321374	0.82[EUR][1000 genomes]
rs62321375	0.82[EUR][1000 genomes]
rs62321376	0.82[EUR][1000 genomes]
rs62321377	0.86[EUR][1000 genomes]
rs62321378	0.86[EUR][1000 genomes]
rs62321380	0.84[EUR][1000 genomes]
rs72660519	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72660521	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72660524	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72660532	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72677343	0.83[EUR][1000 genomes]
rs72677353	0.86[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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107258600-107281400	Weak transcription	Fetal Heart	heart
2	chr4:107260800-107285400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:107270200-107280400	Weak transcription	NH-A	brain
4	chr4:107270400-107280000	Weak transcription	Fetal Kidney	kidney
5	chr4:107270600-107286200	Weak transcription	HepG2	liver
6	chr4:107270800-107283200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:107270800-107290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:107271200-107278200	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:107271200-107286400	Weak transcription	Fetal Intestine Large	intestine
10	chr4:107271400-107278600	Weak transcription	NHDF-Ad	bronchial
11	chr4:107272200-107280400	Weak transcription	HSMM	muscle
12	chr4:107272800-107280000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:107273000-107280200	Weak transcription	NHEK	skin
14	chr4:107273000-107286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:107273000-107286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:107273200-107280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:107273400-107282000	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:107274600-107278600	Weak transcription	Left Ventricle	heart
19	chr4:107275000-107279000	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:107276000-107279600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:107276400-107279000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr4:107276800-107280000	Weak transcription	NHLF	lung
23	chr4:107277200-107280400	Weak transcription	Osteobl	bone
24	chr4:107277400-107280000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr4:107277800-107278400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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