Variant report

Variant	rs4547483
Chromosome Location	chr2:153220427-153220428
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10931067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931068	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022419	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13024533	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13029771	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432002	0.81[EUR][1000 genomes]
rs2345903	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28510143	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4425036	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4664103	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4664569	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4664570	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4664573	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58092541	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62179530	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62179556	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62180761	0.82[EUR][1000 genomes]
rs6433984	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6704965	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6715843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6754501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757219	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9288090	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
2	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
5	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
8	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:153205400-153223800	Weak transcription	HMEC	breast
10	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:153209800-153225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:153210800-153223200	Weak transcription	Ovary	ovary
16	chr2:153211000-153223200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:153212000-153223600	Weak transcription	NHEK	skin
18	chr2:153212000-153224200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:153212400-153224200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:153212800-153225600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:153213400-153221600	Weak transcription	Psoas Muscle	Psoas
22	chr2:153214800-153223800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:153214800-153227600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:153215000-153226000	Weak transcription	Left Ventricle	heart
25	chr2:153215600-153224200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:153216600-153233400	Weak transcription	Fetal Lung	lung
27	chr2:153217400-153223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:153219000-153224800	Enhancers	Brain Substantia Nigra	brain
29	chr2:153219400-153222600	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:153219600-153221000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:153219800-153221800	Weak transcription	HepG2	liver
32	chr2:153220000-153221000	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:153220000-153221800	Weak transcription	Brain Angular Gyrus	brain
34	chr2:153220400-153220600	Enhancers	Brain Inferior Temporal Lobe	brain

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