Variant report

Variant	rs62264747
Chromosome Location	chr3:119741298-119741299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10433404	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10934500	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10934502	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10934503	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10934505	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10934506	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10934507	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11915717	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11917714	0.80[ASN][1000 genomes]
rs12054090	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12108149	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12629015	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12630829	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12632325	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12634476	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12634889	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12635018	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12638973	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1574154	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs16830567	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1870931	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980718	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2276707	0.81[ASN][1000 genomes]
rs28831519	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814057	0.83[ASN][1000 genomes]
rs3814058	0.83[ASN][1000 genomes]
rs4340737	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4624596	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4688042	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4688046	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688047	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4688053	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688054	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688059	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56728675	0.83[ASN][1000 genomes]
rs57939147	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs58493895	0.83[ASN][1000 genomes]
rs58863896	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60235167	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60393216	0.83[ASN][1000 genomes]
rs62264706	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62264708	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62264714	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62264734	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62264739	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62264742	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62264743	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62264749	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62266274	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62266277	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62266281	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6773751	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6797459	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6808874	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7633279	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7639388	0.89[AFR][1000 genomes];0.81[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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119712600-119745000	Weak transcription	Hela-S3	cervix
2	chr3:119713200-119744400	Weak transcription	Fetal Kidney	kidney
3	chr3:119724000-119741400	Weak transcription	Thymus	Thymus
4	chr3:119730000-119743000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:119730000-119743000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:119730600-119741600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:119731000-119741400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:119731400-119752400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:119732200-119747200	Weak transcription	Gastric	stomach
10	chr3:119732200-119747600	Weak transcription	Right Ventricle	heart
11	chr3:119732600-119741600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:119732600-119748400	Weak transcription	Brain Angular Gyrus	brain
13	chr3:119732600-119748600	Weak transcription	HSMM	muscle
14	chr3:119732600-119757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:119732800-119746200	Weak transcription	Fetal Lung	lung
16	chr3:119732800-119749200	Weak transcription	Fetal Stomach	stomach
17	chr3:119733000-119747400	Weak transcription	Right Atrium	heart
18	chr3:119733200-119744200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:119733400-119741600	Weak transcription	Osteobl	bone
20	chr3:119734800-119750000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:119735000-119751600	Weak transcription	Primary B cells from cord blood	blood
22	chr3:119735200-119742800	Weak transcription	Fetal Brain Female	brain
23	chr3:119735800-119744400	Weak transcription	HMEC	breast
24	chr3:119736000-119746400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr3:119736600-119744000	Weak transcription	Fetal Intestine Small	intestine
26	chr3:119737000-119741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:119737000-119749400	Weak transcription	Stomach Mucosa	stomach
28	chr3:119737000-119751800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr3:119737400-119741600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:119737400-119741600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:119737400-119744600	Weak transcription	HepG2	liver
32	chr3:119737400-119751800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:119737400-119754000	Weak transcription	Small Intestine	intestine
34	chr3:119737600-119743000	Weak transcription	Spleen	Spleen
35	chr3:119737800-119757200	Weak transcription	A549	lung
36	chr3:119738400-119744800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:119738400-119747000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:119738600-119741600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:119738600-119743600	Weak transcription	Fetal Intestine Large	intestine
40	chr3:119738600-119747000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:119738800-119746400	Weak transcription	Fetal Heart	heart
42	chr3:119739000-119741400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:119739000-119742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:119739200-119741600	Weak transcription	Dnd41	blood
45	chr3:119739200-119742600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr3:119739200-119744000	Weak transcription	Fetal Thymus	thymus
47	chr3:119739400-119741600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:119739400-119756000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:119739600-119743000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr3:119739600-119749400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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