Variant report

Variant	rs1438553
Chromosome Location	chr3:105071129-105071130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13095216	0.90[ASN][1000 genomes]
rs13095274	0.90[ASN][1000 genomes]
rs1438544	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1438546	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1438554	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4589964	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55934921	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62262153	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6437579	0.94[EUR][1000 genomes]
rs6437582	0.90[ASN][1000 genomes]
rs6437583	0.90[ASN][1000 genomes]
rs6437584	0.90[ASN][1000 genomes]
rs6773531	0.81[EUR][1000 genomes]
rs6793758	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6797065	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6797259	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6804633	0.95[EUR][1000 genomes]
rs7611398	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7620029	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7620713	0.95[EUR][1000 genomes]
rs7626665	0.90[ASN][1000 genomes]
rs7634168	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7635959	0.95[EUR][1000 genomes]
rs9288801	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9852729	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9869867	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9880342	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9883403	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv829650	chr3:105070893-105255036	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105068000-105072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:105068000-105072400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:105068000-105072400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:105068600-105071400	Enhancers	NHDF-Ad	bronchial
5	chr3:105068600-105072400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:105068600-105072400	Enhancers	NHEK	skin
7	chr3:105068600-105074600	Enhancers	HMEC	breast
8	chr3:105069000-105072400	Weak transcription	HSMMtube	muscle
9	chr3:105069400-105071400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:105069800-105072200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:105069800-105072400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:105069800-105072400	Weak transcription	Psoas Muscle	Psoas
13	chr3:105070000-105071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:105070000-105071400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:105070000-105072200	Enhancers	HUVEC	blood vessel
16	chr3:105070200-105071600	Weak transcription	NH-A	brain
17	chr3:105070200-105072400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:105070200-105072400	Weak transcription	Aorta	Aorta
19	chr3:105070400-105071400	Weak transcription	HSMM	muscle
20	chr3:105070400-105071800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:105070800-105072000	Weak transcription	Osteobl	bone
22	chr3:105071000-105072000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:105071000-105072200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:105071000-105072400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:105071000-105072400	Weak transcription	NHLF	lung
26	chr3:105071000-105078200	Weak transcription	A549	lung

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