Variant report

Variant	rs73242647
Chromosome Location	chr4:57961302-57961303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28656154	0.93[ASN][1000 genomes]
rs73242642	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242643	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73242644	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242645	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242646	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242650	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242651	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73242656	0.83[AFR][1000 genomes]
rs73242657	0.83[AFR][1000 genomes]
rs73242659	0.91[AFR][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
2	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
3	chr4:57950000-57963800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:57956200-57964000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:57956400-57965400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:57956800-57974400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:57957000-57974600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:57957200-57975200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:57957400-57967000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:57958000-57962600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:57958000-57968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:57958200-57964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:57958200-57965400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:57958200-57967000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
17	chr4:57958400-57963400	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:57958400-57967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:57958800-57967000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:57959800-57961600	Enhancers	Fetal Heart	heart
21	chr4:57959800-57961600	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:57959800-57973400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:57960000-57962400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:57960000-57962400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:57960000-57962800	Enhancers	Colon Smooth Muscle	Colon
26	chr4:57960000-57966000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:57960200-57961400	Enhancers	Aorta	Aorta
28	chr4:57960200-57961600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:57960200-57961600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:57960200-57961600	Flanking Active TSS	A549	lung
31	chr4:57960200-57961800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:57960200-57962200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:57960200-57962600	Enhancers	Right Ventricle	heart
34	chr4:57960200-57962600	Enhancers	NHDF-Ad	bronchial
35	chr4:57960200-57963000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:57960400-57961400	Enhancers	Right Atrium	heart
37	chr4:57960400-57961400	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr4:57960400-57961400	Enhancers	HSMMtube	muscle
39	chr4:57960400-57961400	Enhancers	NHLF	lung
40	chr4:57960400-57961800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:57960400-57961800	Enhancers	HMEC	breast
42	chr4:57960400-57962000	Enhancers	HSMM	muscle
43	chr4:57960400-57962200	Enhancers	Left Ventricle	heart
44	chr4:57960400-57962600	Enhancers	HUVEC	blood vessel
45	chr4:57960400-57963000	Genic enhancers	NH-A	brain
46	chr4:57960600-57962400	Enhancers	Stomach Smooth Muscle	stomach
47	chr4:57960600-57964400	Weak transcription	Fetal Lung	lung
48	chr4:57960600-57968600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:57960800-57961400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:57960800-57961600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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