Variant report

Variant	rs62274728
Chromosome Location	chr3:102134301-102134302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10511197	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10511198	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10937019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054046	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16844993	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16845024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845027	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845049	0.85[EUR][1000 genomes]
rs2013942	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55654405	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55925410	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56057951	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56132352	0.83[AMR][1000 genomes]
rs56224182	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62272479	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62272480	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62272481	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62272482	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62272483	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62272484	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62272486	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62272490	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62272491	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62272492	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62272493	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62274710	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62274711	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62274720	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274721	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274723	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274724	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274726	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274729	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274731	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274734	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73146520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157654	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7624802	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626999	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7653110	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9811444	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9867423	0.80[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	nsv877227	chr3:102067254-102184308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1007340	chr3:102108954-102725099	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv536676	chr3:102108954-102725099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102130200-102134400	Weak transcription	HMEC	breast
2	chr3:102133200-102135000	Enhancers	Colon Smooth Muscle	Colon
3	chr3:102133600-102135000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:102133800-102134400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:102133800-102134600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:102133800-102134600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr3:102133800-102135000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:102134000-102134400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:102134000-102134400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:102134000-102134400	Enhancers	Brain Hippocampus Middle	brain
11	chr3:102134000-102134600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:102134000-102134800	Active TSS	Brain Substantia Nigra	brain
13	chr3:102134000-102134800	Active TSS	Stomach Smooth Muscle	stomach
14	chr3:102134000-102135000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:102134000-102135000	Active TSS	Aorta	Aorta
16	chr3:102134200-102134400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:102134200-102134400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr3:102134200-102134600	Active TSS	HSMM	muscle
19	chr3:102134200-102134800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:102134200-102134800	Active TSS	Ovary	ovary
21	chr3:102134200-102134800	Active TSS	GM12878-XiMat	blood
22	chr3:102134200-102134800	Active TSS	NHDF-Ad	bronchial
23	chr3:102134200-102134800	Active TSS	NHLF	lung
24	chr3:102134200-102135000	Active TSS	Brain Anterior Caudate	brain
25	chr3:102134200-102135000	Active TSS	Duodenum Smooth Muscle	Duodenum

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