Variant report

Variant	rs1471588
Chromosome Location	chr3:98687615-98687616
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10433438	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10511169	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10511171	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10935518	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10935542	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10935564	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10935610	0.86[AMR][1000 genomes]
rs11708475	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11716000	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11716007	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11716281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11716579	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11719660	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11914591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11918243	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11918944	0.97[ASN][1000 genomes]
rs11920205	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11920327	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11922078	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11923486	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11923805	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11928233	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13069458	0.97[ASN][1000 genomes]
rs16840260	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17212369	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17213336	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17278047	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17278278	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17852693	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1827158	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55650073	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55662129	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55730510	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55764252	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55988144	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56290036	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56322058	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62276861	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62276862	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62276864	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62276869	0.97[ASN][1000 genomes]
rs62276879	0.91[ASN][1000 genomes]
rs62276883	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62276884	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62276885	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62276888	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62276909	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62276944	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440253	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66517942	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6805605	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138027	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138030	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138048	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138053	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138055	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138058	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73138063	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138082	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73140009	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73140027	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73140032	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7432439	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7614892	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7629550	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7638009	0.97[ASN][1000 genomes]
rs7642785	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs982291	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98683800-98690000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:98684400-98690200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:98684400-98690200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:98684800-98689400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:98685200-98690400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:98685200-98690400	Enhancers	HUVEC	blood vessel
7	chr3:98685400-98688000	Enhancers	Osteobl	bone
8	chr3:98686000-98687800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:98686200-98688000	Enhancers	NHLF	lung
10	chr3:98686200-98690200	Weak transcription	HSMM	muscle
11	chr3:98686400-98689800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:98686400-98692000	Enhancers	NHEK	skin
13	chr3:98686600-98688000	Enhancers	NH-A	brain
14	chr3:98686800-98690200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:98687000-98688800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:98687000-98692000	Enhancers	NHDF-Ad	bronchial
17	chr3:98687200-98688000	Flanking Active TSS	A549	lung
18	chr3:98687200-98688200	Enhancers	HMEC	breast
19	chr3:98687200-98690400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:98687400-98688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:98687600-98688000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:98687600-98688000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:98687600-98690000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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