Variant report

Variant	rs57509340
Chromosome Location	chr3:119144332-119144333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1132202	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556604	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12631504	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639070	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16829809	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17281612	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17281647	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17281703	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2282173	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2282175	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58968288	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59333081	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59551807	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60375691	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60588168	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60671082	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61740281	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6772534	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6782411	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6800924	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72968474	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
2	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:119133800-119147400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:119134200-119148800	Weak transcription	Pancreas	Pancrea
6	chr3:119134600-119147600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:119134800-119147400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:119135000-119147400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr3:119135000-119147600	Weak transcription	Fetal Thymus	thymus
10	chr3:119135000-119147800	Weak transcription	Placenta	Placenta
11	chr3:119135000-119148000	Weak transcription	Aorta	Aorta
12	chr3:119135200-119145000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:119135200-119149800	Weak transcription	Gastric	stomach
14	chr3:119135400-119145600	Weak transcription	HUVEC	blood vessel
15	chr3:119135400-119147800	Weak transcription	Ovary	ovary
16	chr3:119135400-119148000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:119135400-119150000	Weak transcription	Spleen	Spleen
18	chr3:119136800-119145600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:119137400-119145400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:119137400-119145400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:119137400-119147800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:119137800-119146800	Weak transcription	Osteobl	bone
23	chr3:119138000-119148400	Weak transcription	Fetal Stomach	stomach
24	chr3:119138000-119152400	Weak transcription	Lung	lung
25	chr3:119139400-119147000	Weak transcription	Left Ventricle	heart
26	chr3:119142400-119150800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:119144200-119145200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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