Variant report

Variant	rs73242650
Chromosome Location	chr4:57963792-57963793
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11573048	0.94[EUR][1000 genomes]
rs28656154	0.85[ASN][1000 genomes]
rs35281174	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73242642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242643	0.91[ASN][1000 genomes]
rs73242644	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242646	0.91[ASN][1000 genomes]
rs73242647	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242651	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73242656	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73242657	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73242658	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73242659	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73242660	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73242661	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73242663	0.91[AMR][1000 genomes];0.94[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:70 , 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	chr4:57958000-57968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:57958200-57964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:57958200-57965400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:57958200-57967000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
16	chr4:57958400-57967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:57958800-57967000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:57959800-57973400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:57960000-57966000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:57960600-57964400	Weak transcription	Fetal Lung	lung
21	chr4:57960600-57968600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:57961000-57964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:57961000-57964200	Weak transcription	Adipose Nuclei	Adipose
24	chr4:57961200-57963800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:57961200-57964000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:57961200-57964000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:57961200-57964200	Weak transcription	Lung	lung
28	chr4:57961200-57964200	Weak transcription	Pancreas	Pancrea
29	chr4:57961200-57964600	Weak transcription	Ovary	ovary
30	chr4:57961200-57967000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:57961200-57967200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:57961400-57964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:57961400-57964000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:57961400-57968200	Weak transcription	Brain Substantia Nigra	brain
35	chr4:57961400-57969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:57961600-57963800	Weak transcription	Fetal Heart	heart
37	chr4:57961600-57964000	Strong transcription	HSMMtube	muscle
38	chr4:57961600-57965200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:57961600-57966600	Enhancers	A549	lung
40	chr4:57961800-57963800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:57961800-57964400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:57961800-57964600	Enhancers	Aorta	Aorta
43	chr4:57961800-57968200	Weak transcription	HMEC	breast
44	chr4:57962000-57964400	Weak transcription	HSMM	muscle
45	chr4:57962000-57965000	Genic enhancers	Osteobl	bone
46	chr4:57962200-57964000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:57962200-57964000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:57962200-57964000	Weak transcription	Left Ventricle	heart
49	chr4:57962200-57964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:57962400-57964000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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