Variant report

Variant	rs62179530
Chromosome Location	chr2:153212822-153212823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10931067	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931068	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931069	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13022419	0.94[ASN][1000 genomes]
rs13024533	0.82[EUR][1000 genomes]
rs13029771	0.92[ASN][1000 genomes]
rs13402243	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13432002	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2345903	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28510143	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4425036	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4547483	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664103	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664569	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664570	0.86[ASN][1000 genomes]
rs4664573	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58092541	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62179556	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62180761	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180766	0.81[EUR][1000 genomes]
rs6433984	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6704965	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6715843	0.92[ASN][1000 genomes]
rs6725656	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6725789	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6754501	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757219	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288090	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	esv3693435	chr2:153210444-153219178	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
2	chr2:153194600-153214600	Weak transcription	Gastric	stomach
3	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
6	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
10	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
12	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
13	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
15	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:153205200-153216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:153205400-153223800	Weak transcription	HMEC	breast
18	chr2:153206600-153214400	Weak transcription	Left Ventricle	heart
19	chr2:153206800-153215600	Weak transcription	Pancreas	Pancrea
20	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:153207000-153214400	Weak transcription	Lung	lung
22	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:153209800-153225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:153210800-153213200	Enhancers	Fetal Brain Female	brain
27	chr2:153210800-153223200	Weak transcription	Ovary	ovary
28	chr2:153211000-153223200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:153211600-153213000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:153212000-153213400	Enhancers	HepG2	liver
31	chr2:153212000-153216000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:153212000-153218200	Weak transcription	NH-A	brain
33	chr2:153212000-153223600	Weak transcription	NHEK	skin
34	chr2:153212000-153224200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:153212400-153213200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:153212400-153213400	Enhancers	Brain Hippocampus Middle	brain
37	chr2:153212400-153214200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:153212400-153215800	Weak transcription	A549	lung
39	chr2:153212400-153216000	Weak transcription	Osteobl	bone
40	chr2:153212400-153218000	Weak transcription	Brain Anterior Caudate	brain
41	chr2:153212400-153224200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:153212600-153215800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:153212600-153216200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:153212800-153213200	Weak transcription	Brain Angular Gyrus	brain
45	chr2:153212800-153215200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:153212800-153215800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:153212800-153219400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:153212800-153225600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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